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Journal articles on the topic 'Etiology and pathogenesis of malignant neoplasms of the esophagus'
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1
Burmistrov, M., and S. Bebezov. "ESOPHAGEAL ADENOCARCINOMA: DEFINITION, CLASSIFICATION, EPIDEMIOLOGY, ETIOLOGY, PATHOGENESIS." Znanstvena misel journal, no. 69 (August 19, 2022): 12–20. https://doi.org/10.5281/zenodo.7009135.
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Burmistrov, Mikhail Vladimirovich, and Михаил Владимирович Бурмистров. "ESOPHAGEAL ADENOCARCINOMA: GENERAL INFORMATION." Annali d'Italia 46 (August 23, 2023): 31–40. https://doi.org/10.5281/zenodo.8277618.
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Burmistrov, M. "ESOPHAGEAL ADENOCARCINOMA: DEFINITION, CLASSIFICATION, EPIDEMIOLOGY, ETIOLOGY, PATHOGENESIS." International independent scientific journal, no. 41 (August 5, 2022): 23–32. https://doi.org/10.5281/zenodo.6980593.
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<strong><em>Abstract</em></strong> <em>The publication provides detailed information on the classification, epidemiology, etiology and pathogenesis of esophageal adenocarcinoma.</em> <strong><em>Аннотация</em></strong> <em>В статье выполнен подробный обзор литературы, содержащей сведения о научных взглядах на классификацию, эпидемиологию, этиологию и патогенезаденокарциномы пищевода.</em>
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Raza, Muhammad Adeel, and Paul F. Mazzara. "Sarcomatoid Carcinoma of Esophagus." Archives of Pathology & Laboratory Medicine 135, no. 7 (2011): 945–48. http://dx.doi.org/10.5858/2010-0074-rsr.1.
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Abstract Sarcomatoid carcinoma of the esophagus is an uncommon malignancy, representing approximately 2% of esophageal carcinomas. It has also been referred to as carcinosarcoma, pseudosarcoma, pseudosarcomatous squamous cell carcinoma, spindle cell carcinoma, and polypoid carcinoma, reflecting the uncertainty of its pathogenesis. Histologically, carcinomatous and sarcomatous components coexist. The clinical and radiologic findings resemble other esophageal neoplasms. Sarcomatoid carcinoma often presents as a large, intraluminal, polypoid mass on barium esophagram. Despite its size, however, sarcomatoid carcinoma has a more favorable prognosis than other malignant esophageal neoplasms, likely because of its exophytic growth into the lumen, rather than deep invasion. This article provides a brief overview of the clinicopathologic features and possible pathogenesis of this uncommon tumor.
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Lun'kova, Mariya N., Elena V. Litvyakova, S. A. Ivanov, A. D. Kaprin, Maksim S. Denisov, and Marina V. Kiseleva. "Case study: surgical treatment of patient with breast cancer." Clinical review for general practice 4, no. 12 (2023): 25–28. http://dx.doi.org/10.47407/kr2023.4.12.00326.
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Rare breast neoplasms are found by physicians in clinical practice. Phyllodes tumor of the breast accounting for 0.3–1% of all breast neoplasms is one of these neoplasms. Today, the phyllodes tumor etiology is unclear, the same as its pathogenesis. The paper reports an example of successful surgical treatment of malignant phyllodes tumor.
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Aleksandrova, A. K., and V. A. Smolyannikova. "Seborrheic keratosis: current concepts of pathogenesis." Vestnik dermatologii i venerologii 90, no. 4 (2014): 28–34. http://dx.doi.org/10.25208/0042-4609-2014-90-4-28-34.
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The article covers problems of seborrheic keratosis. The authors discuss current concepts of the etiology and pathogenesis of the disease paying special attention to the histology and immunohistochemistry of different forms and diverse clinical presentations. They describe Leser - Trelat syndrome as well as potential neoplastic transformation of seborrheic keratomas and their association with malignant skin neoplasms.
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Korzhenkova, G. P., and A. A. Kasymova. "Malignant Phyllodes Tumor by the Example of a Clinical Case." Journal of radiology and nuclear medicine 102, no. 3 (2021): 178–82. http://dx.doi.org/10.20862/0042-4676-2021-102-3-178-182.
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Breast cancer is the most common cancer in women worldwide, but there are also rarer types of breast neoplasms in clinical practice. One of these neoplasms is a phyllodes tumor. Due to the rare occurrence of phyllodes tumors and few studies of this pathology, there is today no information about the precise etiology and pathogenesis of this tumor. For the same reasons, it is very difficult to correctly and timely diagnose breast cancer, which requires both a highly qualified radiologist who first detects this disease in a patient and a pathologist who establishes a final morphological diagnosis. Existing studies, such as mammography and ultrasound, do not have reliable criteria for the diagnosis of phyllodes tumors and are unable to differentiate different histological types of these neoplasms, which further complicates the diagnosis of this pathology. Also, standards for the treatment of patients with this diagnosis have not been fully approved. The paper describes a clinical case of successful surgical treatment for a malignant phyllodes tumor of the left breast in a 47-year-old patient.
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Izmailov, A. A., A. V. Sultanbaev, K. V. Menshikov, et al. "<i>BRCA</i> associated prostate cancer. <i>BRCA</i> heredity of one family." Cancer Urology 17, no. 4 (2022): 157–64. http://dx.doi.org/10.17650/1726-9776-2021-17-4-157-164.
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In western European countries prostate cancer is one of the most common malignant disease among male population. Due to innovations in molecular genetics research technology over recent years genetic features of etiology and pathogenesis of prostate cancer have been discovered and this helped to distinguish people with high risk of prostate cancer development. Hereditary forms of malignant tumors occupy a special position due to association with mutations in BRCA1/2 gene in a group of patients with prostate cancer. The most important part of examination of patients with malignant diseases is medico-genetic counseling. It helps to reveal the hereditary of the disease. The detection of germinal mutations in BRCA1/2 gene helps to personify diagnostic measures for primary prophylaxis and treatment of prostate cancer.Here is a case of one patient with hereditary feature of prostate cancer with a mutation in BRCA1 gene. It is important to note that revealing mutations in BRSA gene helps to early diagnose malignant neoplasms. Screening measures to reveal germinal mutations in healthy population can improve early detection of such malignant diseases as breast cancer, prostate cancer and other malignant neoplasms.
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Stepanov, Yu M., N. V. Prolom, I. S. Konenko, S. O. Tarabarov, N. P. Dementii, and I. M. Adamska. "The role of endoscopic ultrasound investigation in the diagnosis of submucosal neoplasms of the stomach and duodenum (literature review and our clinical observations)." GASTROENTEROLOGY 55, no. 4 (2022): 270–79. http://dx.doi.org/10.22141/2308-2097.55.4.2021.247922.
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Submucosal neoplasms of the stomach and duodenum include a group of diseases with different etiology, clinical symptoms, diagnosis and management. Conventional gastroduodenoscopy helps detect submucosal formations in 0.36–4 % of cases, while the stomach is the most common site of submucosal lesions (up to 60 %). Endoscopy and ultrasound endoscopic examination are important tools for the diagnosis of submucosal tumors of the esophagus, stomach, duodenum, both benign (polyps, submucosal formations, extraorganic compression, cysts) and malignant neoplasms of the gastrointestinal tract, especially small and accidentally detected. It is important not only to diagnose the tumor, but also to determine from which layers it comes, what level germinates, whether there is damage to regional lymph nodes. Only endoscopic ultrasonography (EUS) can answer these questions. EUS combines the capabilities of two studies: endoscopic and ultrasound, which significantly increased the informativeness of endoscopic examination, as it was possible to determine the site of the pathological process and the degree of intramural invasion, and also made it possible to carry out the differential diagnosis of submucosal tumors and pathological processes in organs adjacent to the esophagus, stomach, duodenum. The article presents examinations of patients with submucous formations of the stomach and duodenum at the Institute of Gastroenterology of the National Academy of Medical Sciences of Ukraine. With the help of EUS, the diagnosis was confirmed in one patient, and in another one, the submucosal neoplasms was excluded.
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Andreeva, N. A., and E. V. Kumirova. "Neurobiology of sleep and insomnia in children with CNS tumors." Russian Journal of Children Hematology and Oncology 5, no. 4 (2019): 51–59. http://dx.doi.org/10.17650/2311-1267-2018-5-4-51-59.
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Insomnia is a common symptom in children with malignant diseases and especially in children with tumors of the central nervous system (CNS). However, little attention is paid this complication during the therapy of malignant neoplasms. Insomnia violates the quality of life of children and their immediate surroundings. In this article, the etiology, pathogenesis, and diagnostics are discussed in detail, and methods for treating this pathology are presented with two clinical cases confirming the diverse nature of insomnia in CNS tumors. Thus, the importance of an individual approach to the therapy of insomnia is emphasized.Conflict of interest. The authors declare no conflict of interest.Funding. The study was performed without external funding
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Graziano, Luciana, Paschoal Graziano Filho, Almir Galvão Vieira Bitencourt, Daniel Bernal Soto, Alexandre Hiro, and Cíntia Camillo Nunes. "Metaplastic squamous cell carcinoma of the breast: A case report and literature review." Revista da Associação Médica Brasileira 62, no. 7 (2016): 618–21. http://dx.doi.org/10.1590/1806-9282.62.07.618.
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Summary Metaplastic tumors are rare and represent a heterogeneous group of neoplasms showing dominant areas of non-glandular differentiation. Etiology and pathogenesis of this type of lesion in the breast is uncertain. The most common sources of metastatic squamous cell carcinoma of the breast are lung, esophagus, cervix, and urinary bladder. Squamous cell carcinomas may present clinically with inflammation and average size greater than breast adenocarcinoma. As for imaging studies, mammography shows no typical findings and ultrasound can show a complicated cyst or an inflammatory process, among the differential diagnoses. Therefore, knowing this pathological entity, its clinical course and imaging findings is important to safely treat such a rare and aggressive disease. We herein report a case of metaplastic carcinoma, squamous subtype, diagnosed by core needle biopsy.
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Chernyakova, O. I., A. A. Suvorova, A. A. Vashkevich, K. I. Raznatovsky, P. A. Reztsova, and T. Z. Alikbaev. "Actinic keratosis. Features of pathogenesis, modern approaches to diagnosis and therapy." Russian Journal of Clinical Dermatology and Venereology 24, no. 2 (2025): 227. https://doi.org/10.17116/klinderma202524021227.
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Actinic keratosis (AK, solar keratosis) is a common chronic skin disease that develops as a result of intraepidermal proliferation of atypical keratinocytes and is the precursor of squamous cell skin carcinoma (SCSC). Most often AK is localized on the skin areas exposed to long-term insolation and is usually a flat erythematosquamous plaque or spot with white or yellowish scales on the surface, slightly painful when scraping. Skin cancer incidence occupies the first place among all malignant neoplasms in the Russian Federation. The problem of AK occurrence can be faced by doctor of any specialty. Lesions in AK require timely diagnosis and treatment due to their potential transformation into invasive squamous cell carcinoma. However, the etiology and mechanisms underlying the pathogenesis of AK are not fully studied, clinical recommendations and patient management algorithms are not developed, therefore this disease is a topical problem in dermatovenereology. The article discusses the features of AK etiology and pathogenesis, clinical and dermatoscopic characteristics of this disease, as well as modern approaches to its treatment.
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Peregorodiev, I. N., S. V. Vinokurova, V. Yu Bohyan, et al. "Role of microRNAs in neuroendocrine neoplasms of the stomach." Advances in Molecular Oncology 7, no. 3 (2020): 19–26. http://dx.doi.org/10.17650/2313-805x-2020-7-3-19-26.
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Neuroendocrine neoplasms (NENs) are a heterogeneous group of rare epithelial tumors that arise from cells with a neuroendocrine phenotype. NENs are found in the gastrointestinal tract and pancreas – 60 % of all localities. The incidence of gastric NENs is about 9 % of all neuroendocrine tumors of the gastrointestinal tract and 0.3 % of all stomach tumors. Stomach neuroendocrine tumors (NETs) are classified into three clinico-pathological types, based on etiology, pathogenesis and morphology. There are also separate neuroendocrine cancers: small- and large-cell. The prognosis and approach to treatment of various types of gastric NENs differs significantly. Modern methods of instrumental diagnostics, immunohistochemical methods of morphological research, along with light microscopy, do not always allow us to accurately assess the malignant potential of a tumor and individualize the treatment process. One of the promising directions in the study of NETs is to determine the molecular mechanism underlying their development, in particular the role of microRNAs. This direction can open a new vector of understanding the pathogenesis, determining the prognosis of the disease, as well as finding new application points for the drug treatment of NETs. MicroRNAs are a class of short non-coding RNA molecules (18–25 nucleotides). MicroRNAs can be involved in the regulation of all major cellular processes, including proliferation and differentiation, metabolism, signaling pathways, and apoptosis. A study of microRNA expression in tissues revealed tumor-specific microRNAs. In contrast to a number of other malignant tumors, microRNA expression in patients diagnosed with NENs is poorly understood. MicroRNA-222 and microRNA-202 are among the few microRNAs that have been demonstrated in the NETs of the stomach.
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Hsieh, Ricardo, and Silvia Vanessa Lourenço. "Does BCL-2 Play Role in the Pathogenesis of Primary Oral Mucosal Melanoma?" Journal of Medical Research and Surgery 1, no. 2 (2020): 1–3. http://dx.doi.org/10.52916/jmrs204007.
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Primary Oral Mucosal Melanoma represents 0.2 to 8% of all melanomas and 0.5% of all oral malignant neoplasia. The etiology still unknown, however, it has been suggested that head and neck mucosal melanomas change their genetic and metabolic pathways through intracellular cascades, which are associated with its etiopathogenesis mechanisms. The BCL2 protein is an integral part of the cell membrane, and it is also found in the cell nucleus, mitochondria, and endoplasmic reticulum. It is overexpressed in several malignant neoplasms, including cutaneouse ocular melanomas. Among all evaluated cases, we found positive immunostaining of BCL-2 in 26/34 (76.47%) and they had a membrane and cytoplasmic pattern, and the intensity was variable. According to our results and the findings of the literature, it can be suggested that BCL-2 has an important role in melanoma pathogenesis, including Primary Oral Mucosal Melanoma and also melanoma metastases. It seems that BCL-2 could be an adjunct marker for POMM and also a target for treatment development. New researches involving BCL-2 and a larger primary oral mucosal melanoma cohort could corroborate the present study
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Okladnikova, E. V., and A. R. Esimbekova. "A case of fungal mycosis in a patient with a history of superficially spreading melanoma of the skin." Medical alphabet, no. 8 (June 4, 2025): 96–99. https://doi.org/10.33667/2078-5631-20258-96-99.
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Purpose of the study. Mycosis fungoides (MF) is a tumor transformation of T-lymphocytes of the skin and belongs to cutaneous T-cell lymphomas. The etiology and pathogenesis of MF are unknown; early diagnosis based only on examination of the patient is difficult due to the variety of skin elements in MF. Cases of the development of malignant neoplasms of various localizations in patients with MF due to the developing deficiency of the T-cell component of immunity have been described. The scientific literature contains few descriptions of cases of the development of MF in patients with a history of melanoma.Materials and methods. The presented work examines a clinical case of the development of MF in an 82-year-old woman 4 years after diagnosis and surgical treatment of superficial spreading melanoma of the skin.Results. For the purpose of diagnosing MF and differential diagnosis with other skin pathologies, the use of immunohistochemical research is optimal.Conclusions. The presented clinical case shows the need for long-term, possibly lifelong, observation of patients with a history of melanoma by a dermatologist, as well as the manifestation of oncological vigilance by doctors of other specialties in order to prevent the development of malignant neoplasms of the skin and other organs.
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Ivashkin, V. T., A. F. Sheptulina, K. L. Raikhel'son, et al. "AUTOIMMUNE DISEASES OF DIGESTIVE SYSTEM." Annals of the Russian academy of medical sciences 70, no. 2 (2015): 139–51. http://dx.doi.org/10.15690/vramn.v70.i2.1306.
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Autoimmune diseases of digestive system refer to pathological conditions, caused by autoimmune mechanisms, and their etiology remains unknown. This is a group of relatively rare diseases, however, during the last years a marked tendency towards the raise in incidence and prevalence is observed, which led to an increase in number of clinical investigations on etiology, pathogenesis, and, accordingly, development of new diagnostic methods and therapies. Results of such trials shown, for example, that the pathogenesis of chronic cholestatic liver diseases is associated with nuclear receptors function, while the main etiological and pathogenic factor of inflammatory bowel diseases represents gut microbiota. Despite new achievements in autoimmune diseases of digestive system research, therapies are low effective and are accompanied by a huge number of adverse events. The fact that these diseases may lead to malignant tumors is also worth noting. For example, patients with primary sclerosing cholangitis have a 160 times higher risk of cholangiocellular carcinoma, while 10–14% of patients with celiac disease may develop malignancies of esophagus, small and large intestine. Thus, these diseases require further investigation with a purpose of more accurate diagnostic methods for the detection of disease at early stages and new effective and safe therapies development.
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Ng, Chi Sing, and Jilong Qin. "New Facets of Hematolymphoid Eponymic Diseases." Lymphatics 3, no. 2 (2025): 9. https://doi.org/10.3390/lymphatics3020009.
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Disease eponyms can be confusing, difficult to remember, scientifically non-robust, and lacking in implications on and relationships with cell lineage, histogenesis, and pathogenesis. This review is geared toward revisiting hematolymphoid diseases with eponyms in light of recent advances in technology and science by searching the past fifty years of the literature using Scopus and Google Scholar with the keywords “eponyms, hematolymphoid, diseases, lymphoma, benign, malignant, lymph node, spleen, liver, bone marrow, leukemia”. With advances in science and technology, there is accumulation of information on the morphologic nuances and immunologic, immunophenotypic, and genetic features of various hematolymphoid eponymic diseases, thus shedding light on important issues of etiology and pathogenesis with implications on therapy in various non-neoplastic (Castleman, Evans syndrome Kikuchi–Fujimoto, IgG4-related diseases) and neoplastic (Hodgkin, Burkitt, NK/T-cell lymphomas, dendritic/histiocytic neoplasms, and Sezary syndrome) diseases. This contributes to modern nomenclature, classification, subtyping, prognostication, and discoveries on new treatment strategies of hematolymphoid eponymic diseases.
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Galita, Grzegorz, Joanna Sarnik, Olga Brzezinska, et al. "Polymorphisms in DNA Repair Genes and Association with Rheumatoid Arthritis in a Pilot Study on a Central European Population." International Journal of Molecular Sciences 24, no. 4 (2023): 3804. http://dx.doi.org/10.3390/ijms24043804.
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Rheumatoid arthritis (RA) is a chronic, multifactorial autoimmune disease characterized by chronic arthritis, a tendency to develop joint deformities, and involvement of extra-articular tissues. The risk of malignant neoplasms among patients with RA is the subject of ongoing research due to the autoimmune pathogenesis that underlies RA, the common etiology of rheumatic disease and malignancies, and the use of immunomodulatory therapy, which can alter immune system function and thus increase the risk of malignant neoplasms. This risk can also be increased by impaired DNA repair efficiency in individuals with RA, as reported in our recent study. Impaired DNA repair may reflect the variability in the genes that encode DNA repair proteins. The aim of our study was to evaluate the genetic variation in RA within the genes of the DNA damage repair system through base excision repair (BER), nucleotide excision repair (NER), and the double strand break repair system by homologous recombination (HR) and non-homologous end joining (NHEJ). We genotyped a total of 28 polymorphisms in 19 genes encoding DNA repair-related proteins in 100 age- and sex-matched RA patients and healthy subjects from Central Europe (Poland). Polymorphism genotypes were determined using the Taq-man SNP Genotyping Assay. We found an association between the RA occurrence and rs25487/XRCC1, rs7180135/RAD51, rs1801321/RAD51, rs963917/RAD51B, rs963918/RAD51B, rs2735383/NBS1, rs132774/XRCC6, rs207906/XRCC5, and rs861539/XRCC3 polymorphisms. Our results suggest that polymorphisms of DNA damage repair genes may play a role in RA pathogenesis and may be considered as potential markers of RA.
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Pemov, Alexander, Hua Li, William Presley, Margaret R. Wallace, and David T. Miller. "Genetics of human malignant peripheral nerve sheath tumors." Neuro-Oncology Advances 2, Supplement_1 (2019): i50—i61. http://dx.doi.org/10.1093/noajnl/vdz049.
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Abstract Malignant peripheral nerve sheath tumors (MPNSTs) are heterogeneous, highly aggressive tumors with no widely effective treatment other than surgery. Genomic architecture of MPNST is similar to other soft tissue sarcomas, with a relatively modest burden of single nucleotide variants and an elevated frequency of copy-number alterations. Recent advances in genomic studies identified previously unrecognized critical involvement of polycomb repressor complex 2 (PRC2) core components SUZ12 and EED in transition to malignancy. Notably, somatic changes in NF1, CDKN2A/B, and PRC2 are found in most MPNST regardless of their etiology (e.g. neurofibromatosis type 1-associated vs. sporadic vs. radiation-induced), indicating that similar molecular mechanisms impact pathogenesis in these neoplasms. The timing and specific order of genetic or epigenetic changes may, however, explain the typically poorer prognosis of NF1-associated MPNSTs. Studies that reveal genes and regulatory pathways uniquely altered in malignancies are essential to development of targeted tumor therapies. Characterization of MPNST molecular profiles may also contribute to tools for earlier detection, and prediction of prognosis or drug response. Here we review the genetic discoveries and their implications in understanding MPNST biology.
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Abramova, S., K. Simfukwe, O. Gladkova, D. Grachev, and D. Iseev. "Modern Aspects of Etiology, Mechanisms, Pathogenesis and Diagnostics of Ovarian Formations." Bulletin of Science and Practice 5, no. 5 (2019): 38–45. http://dx.doi.org/10.33619/2414-2948/42/05.
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This review focuses on ovarian lesions. Ovarian tumors occupy the 3rd place among all tumors of the female genital organs, and 7th in the overall structure of malignant tumors, so the problem of timely diagnosis and treatment of ovarian lesions remains relevant. The share of benign ovarian tumors accounts for 70–80%. Among benign ovarian lesions, epithelial lesions are most common — tatami up to 16% and cystadenoma up to 22.8%. Histogenesis of ovarian formations is not fully understood, which explains the contradictions in the origin of a particular tumor. For the first time, features of the mechanisms of neoplasm formation have been described by A. Knudson et al., his team was one of the first to develop and publish the theory of ‘double strike’, interpreting the mechanisms for implementing sporadic and hereditary forms of neoplasms. Ovarian cancer — both on the part of the etiology and the clinical picture of a heterogeneous genetically determined pathology. The basis of the emergence of this group of tumors is the mutation of the genetic apparatus of the cell. Yes, indeed, the diagnostic search for ovarian masses is difficult, and there is a perception that it may also be delayed due to an asymptomatic or asymptomatic course of the disease. The complex of diagnostic measures for ovarian formations should include interviewing patients with anamnesis data collection, clinical and special examination. Thus, in modern conditions, the diagnostic algorithm for searching ovarian formations requires an integrated approach to identify ovarian formations at early stages of development, as well as to conduct differential diagnostics with subsequent determination of the morphological structure of the tumor.
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Abramova, S., K. Simfukwe, O. Gladkova, D. Grachev, and D. Iseev. "Modern Aspects of Etiology, Mechanisms, Pathogenesis and Diagnostics of Ovarian Formations." Bulletin of Science and Practice 5, no. 5 (2019): 38–45. https://doi.org/10.33619/2414-2948/42/05.
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This review focuses on ovarian lesions. Ovarian tumors occupy the 3rd place among all tumors of the female genital organs, and 7th in the overall structure of malignant tumors, so the problem of timely diagnosis and treatment of ovarian lesions remains relevant. The share of benign ovarian tumors accounts for 70–80%. Among benign ovarian lesions, epithelial lesions are most common — tatami up to 16% and cystadenoma up to 22.8%. Histogenesis of ovarian formations is not fully understood, which explains the contradictions in the origin of a particular tumor. For the first time, features of the mechanisms of neoplasm formation have been described by A. Knudson et al., his team was one of the first to develop and publish the theory of ‘double strike’, interpreting the mechanisms for implementing sporadic and hereditary forms of neoplasms. Ovarian cancer — both on the part of the etiology and the clinical picture of a heterogeneous genetically determined pathology. The basis of the emergence of this group of tumors is the mutation of the genetic apparatus of the cell. Yes, indeed, the diagnostic search for ovarian masses is difficult, and there is a perception that it may also be delayed due to an asymptomatic or asymptomatic course of the disease. The complex of diagnostic measures for ovarian formations should include interviewing patients with anamnesis data collection, clinical and special examination. Thus, in modern conditions, the diagnostic algorithm for searching ovarian formations requires an integrated approach to identify ovarian formations at early stages of development, as well as to conduct differential diagnostics with subsequent determination of the morphological structure of the tumor.
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Ufimceva, Marina A., Jurii M. Bochkarev, Maria S. Efimova, Kristina I. Nikolaeva, Diana F. Galiullina, and Anna A. Ivanova. "A familial case of Duncan's dirty dermatosis. Case report." Pediatrics. Consilium Medicum, no. 2 (July 30, 2022): 185–87. http://dx.doi.org/10.26442/26586630.2022.2.201547.
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Terra firma-forme dermatosis (TFFD) belongs to the group of dirty-like dermatoses. The disease was described in 1987, but the etiology and pathogenesis are still insufficiently understood. The true incidence and prevalence of TFFD isn`t clear, there are few publications devoted to this disease. TFFD is clinically manifested by rashes that visually resemble dirt, which can persist for a long time despite the patient's compliance with hygiene standards. There are separate reports on the connection of TFFD with other skin diseases, as well as somatic pathology and malignant neoplasms. The article provides a review of the literature demonstrate two clinical cases of TFFD in children from the same family, draws attention to the development of TFFD after suffering a new coronavirus infection. The article is of interest to dermatovenerologists, family doctors and pediatricians.
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Uhlenhopp, Dustin J., Kristin M. Olson, and Tagore Sunkara. "Squamous Cell Papilloma of the Esophagus: A Case Series Highlighting Endoscopic and Histologic Features." Case Reports in Gastrointestinal Medicine 2020 (June 2, 2020): 1–4. http://dx.doi.org/10.1155/2020/7645926.
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Esophageal squamous papillomas are rare epithelial lesions typically discovered incidentally during EGD. Their prevalence is estimated to be less than 0.01% in the general population. We present three cases of esophageal squamous papillomas identified histologically. It may be possible to identify these lesions macroscopically. One study provided a positive predictive value of 88% for squamous papilloma utilizing the triad of exophytic growth, wart-like projections, and surface vessel crossing seen on narrow band imaging during endoscopy. The etiology is unclear. Chronic mucosal irritation from GERD or esophagitis is the prevailing theory of pathogenesis, but HPV has been detected in some lesions. The malignant potential of these lesions is considered controversial. There are documented cases demonstrating complications with squamous cell carcinoma, so we recommend removal of all esophageal squamous papillomas; however, the small absolute number of cases documented in the literature makes drawing any associations or conclusions between esophageal squamous papillomas and squamous cell carcinoma difficult. Further research is needed regarding treatment and surveillance. This case series helps contribute to the small but growing literature of this rare finding.
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Savuliak, H. R., and V. L. Novak. "Epidemiological data, etiology, pathogenesis, risk factors, clinical manifestations, modern methods of diagnosis and treatment, prediction of the course of multiple myeloma (literature review)." Morphologia 18, no. 1 (2024): 6–18. http://dx.doi.org/10.26641/1997-9665.2024.1.6-18.
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Background. Multiple myeloma (MM) is a neoplastic disease with a multistage course characterized by uncontrolled, multifocal proliferation of monoclonal plasma cells in the bone marrow, which produce monoclonal immunoglobulin or only its fragments, which lead to destruction of bone tissue and organ damage. Quite high rates of both morbidity and mortality from MM require more careful attention and deeper scientific research of this problem. Objective of the article is to investigate the epidemiology, etiology, pathogenesis, risk factors, clinical manifestations, modern methods of diagnosis and treatment, and also prediction of the course of MM. Methods. The following research methods were used: search, extraction and processing of information; assessment of the quality of sources; systematic literature review; content analysis. Research materials are thematic publications of ukrainian and foreign scientists. Results. MM accounts for ~1% of all malignant neoplasms and ~14% of hematological neoplasms worldwide. Etiological factors of MM: genetic predisposition, bacterial or viral infections, ionizing radiation, carcinogenic toxins. The clinical syndrome of MM is characterized by hypergammaglobulinemia, hypercalcemia, susceptibility to infections, and pathological fractures. Diagnosis of MM includes: general analysis of peripheral blood; diagnosis of serum and urine proteins; aspiration biopsy and trepanobiopsy of bone marrow; cytogenetic and molecular diagnostics; other laboratory diagnostics; radiography, CT, MRT and PET-CT. The main methods of treatment of MM: radiation therapy, chemotherapy, combined CT with the inclusion of new drugs, HDCT + autologous THSC. Prediction of the course of MM depends on the R-ISS stage, LDH level and high-risk cytogenetics. Conclusion. During the last years of modern oncohematology, we observe scientific achievements in the diagnosis and treatment of MM. A thorough study of the epidemiology, etiology and pathogenesis, risk factors and clinical manifestations of MM contribute to effective diagnosis and selection of the optimal treatment strategy and tactics, as well as determining the prognosis of the course of MM.
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Hussein Agha, Yasmine, Nathaniel A. Parker, and Joel Alderson. "Case Report: Primary melanoma of the gastroesophageal junction." F1000Research 9 (June 2, 2020): 490. http://dx.doi.org/10.12688/f1000research.24302.1.
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Primary malignant melanoma represents the fifth most common cancer in the United States. It is subdivided into two forms: cutaneous (90%), visceral (8%, including ocular and mucosal) and of unknown primary (2%). The vast majority of gastrointestinal melanomas are secondary lesions until proven otherwise. Primary esophageal melanoma in particular is exceedingly rare, less than 200 cases have been documented in the literature to date. It is highly prevalent in Japan and occurs twice as much in men than women around the 6th decade of life. It has a predilection for the middle and lower esophagus, with only 6 cases occurring at the gastroesophageal junction worldwide. Its etiology and pathogenesis are poorly understood, and no curative treatment has been established given the paucity of cases. We present a case of primary melanoma of the gastroesophageal junction which represents the 2nd incident case in the united states and 7th worldwide.
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Triantafillidis, John K., Konstantinos Georgiou, Manousos M. Konstadoulakis, and Apostolos E. Papalois. "Early-onset gastrointestinal cancer: An epidemiological reality with great significance and implications." World Journal of Gastrointestinal Oncology 16, no. 3 (2024): 583–97. http://dx.doi.org/10.4251/wjgo.v16.i3.583.
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During the last few years, epidemiological data from many countries suggest that the incidence and prevalence of many cancers of the digestive system are shifting from the older to the younger ages, the so-called “early-onset cancer”. This is particularly evident in colorectal cancer and secondarily in other malignant digestive neoplasms, mainly stomach and in a lesser degree pancreas, and biliary tract. It should be emphasized that data concerning digestive neoplasms, except for those referring to the colon and stomach, could be characterized as rather insufficient. The exact magnitude of the shift in younger ages is expected to become clearer shortly, as long as relevant epidemiological data from many parts of the world would be available. The most important question concerns the etiology of this phenomenon, since its magnitude cannot be explained solely by the better diagnostic methodology and the preventive programs applied in many countries. The existing data support the assumption that a number of environmental factors may play a primary role in influencing carcinogenesis, sometimes from childhood. Changes that have appeared in the last decades related mainly to eating habits, consistency of gut microbiome and an increase of obese people interacting with genetic factors, ultimately favor the process of carcinogenesis. Even these factors however, are not entirely sufficient to explain the age-related changes in the frequency of digestive neoplasms. Studies of the individual effect of each of the already known factors or factors likely to be involved in the etiology of this phenomenon and studies using state-of-the-art technologies to accurately determine the degree of the population exposure to these factors are required. In this article, we attempt to describe the epidemiological data supporting the age-shifting of digestive malignancies and their possible pathogenesis. Finally, we propose some measures regarding the attitude of the scientific community to this alarming phenomenon.
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Olisova, Olga Yu, Nataliа P. Teplyuk, Dmitry V. Ignatiev, and Ekaterina R. Dunaeva. "Development of scalded skin syndrome in an adult patient with acquired epidermolysis bullosa after long-term treatment with methotrexate." Russian Journal of Skin and Venereal Diseases 26, no. 1 (2023): 41–49. http://dx.doi.org/10.17816/dv114845.
Full textAbstract:
A clinical case of a patient with epidermolysis bullosa acquisita, which is a rare autoimmune disease ― 0.170.26 cases per 1 million population, with the development, most likely against the background of long-term cytostatic therapy with methotrexate, develops staphylococcal scalded skin syndrome is presented.
 Staphylococcal scalded skin syndrome is a lesion that appears in 0.090.56 cases per 1 million and is predominantly observed in newborns and children under 5 years of age, and cases in adults are usually associated with immunosuppression, human immunodeficiency virus / acquired immunodeficiency syndrome, severe renal failure or malignant neoplasms.
 The article presents literature data on the etiology and pathogenesis of the presented diseases, features of differential diagnosis, description of clinical and laboratory criteria, on the basis of which diagnoses are made.
 This clinical case is of interest to dermatologists, as it describes the scalded skin syndrome, which is rare in everyday practice, in a patient with acquired epidermolysis bullosa, which, despite ongoing therapy, has a risk of death of up to 65%.
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Klimenko, Lada O., Maksim E. Melnikov, Svetlana A. Kulyova, and Gleb V. Kondratiev. "Molecular genetic traits and risk factors for neuroblastoma." Pediatrician (St. Petersburg) 14, no. 3 (2023): 97–110. http://dx.doi.org/10.17816/ped14397-110.
Full textAbstract:
Neuroblastoma is the most common extracranial solid tumor in childhood, accounting for 815% of all malignant neoplasms in children. The uniqueness of the neuroblastoma etiology and pathogenesis creates significant difficulties for doctors due to the unpredictability of the course of the disease: the tumor can regress and lead to death in a short time, showing significant immunity to ongoing therapy. Early diagnosis of a tumor is necessary to understand the risk factors, the etiology, the mechanisms of neuroblastoma occurrence and further development. To date, a number of different risk factors have been identified, related both to genetic aspects and to aspects related to the course of pregnancy, birth and lifestyle of the childs parents. The list of these risk factors is still incomplete and research to identify new factors continues to this day. Morphological and molecular genetic diagnostics play an important role in this. Undifferentiated and low-differentiated variants of neuroblastoma are often associated with MYCN amplification and other chromosomal aberrations determined by molecular genetic research. Chromosomal instability plays an important role in the process of early tumor development, which probably causes the possibility of acquiring certain genetic changes, which also determines the prognosis and further therapeutic options. In this article, we have identified the most significant risk factors by comparing the results of various studies.
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Noiles, Kristin, and Ronald Vender. "Are All Seborrheic Keratoses Benign? Review of the Typical Lesion and Its Variants." Journal of Cutaneous Medicine and Surgery 12, no. 5 (2008): 203–10. http://dx.doi.org/10.2310/7750.2008.07096.
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Background: Seborrheic keratosis (SK) is one of the more common benign epidermal neoplasms seen in adult and middle-aged patients. Objective: As little is written in the literature about the variants of SK, this article aims to categorize and discuss the different subtypes and their important associations. Methods: An in-depth literature search using OVID Medline and PubMed was conducted to classify the various subtypes of SK. Clinical variants were photographed and used to help document the subtypes. The pathology is described for each. Results: Six subtypes of SK were identified: dermatosis papulosa nigra, stucco keratosis, inverted follicular keratosis, large cell acanthoma, lichenoid keratosis, and flat seborrheic keratosis. Although the etiology and pathogenesis of SKs are still largely debatable, several underlying mechanisms and contributing factors have been identified. All subtypes represent benign lesions, and treatment is usually done for cosmetic reasons. Several of the subtypes may act as cutaneous markers for internal malignancy and should be monitored closely for any atypical changes. Conclusion: Although all subtypes of SK are benign, their association with other malignant lesions and ability to serve as cutaneous markers of internal malignancy emphasize the importance of correctly identifying all variants.
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Barkade, Ganesh D., Pranjal S. Bhosale, and Sakshi K. Shirsath. "Overview of brain cancer, its symptoms, diagnosis and treatment." IP International Journal of Comprehensive and Advanced Pharmacology 8, no. 3 (2023): 159–64. http://dx.doi.org/10.18231/j.ijcaap.2023.027.
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Brain cancer, also known as intracranial neoplasms, represents a group of malignant tumors that originate within the brain or its surrounding tissues. This article provides overview of brain cancer, focusing on its epidemiology, etiology, pathogenesis, clinical presentation, diagnostic approaches, and treatment modalities. The epidemiological data highlights the incidence, prevalence, and risk factors associated with brain cancer, emphasizing the importance of early detection and monitoring. Brain tumors are intracranial tumours that occupy skull space. Brain tumors are a relatively rare but lethal malignancy that presents difficulties in determining risk factors in the community. Because of their protected location in the brain, these tumors are intrinsically difficult to cure, with surgery, radiation, and chemotherapy therapies possibly resulting in long-term morbidity for patients and inadequate tumor cure. Because the space inside the skull is limited, brain tumors are dangerous because their growth raises intracranial pressure and can induce edema, restricted blood flow, and displacement, with subsequent degeneration, of healthy tissue that regulates important processes. In fact, brain tumors are the second largest cause of cancer fatalities in children and young people. Methods of prevention are being developed.
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Bahrami, Armita, Jae Y. Ro, and Alberto G. Ayala. "An Overview of Testicular Germ Cell Tumors." Archives of Pathology & Laboratory Medicine 131, no. 8 (2007): 1267–80. http://dx.doi.org/10.5858/2007-131-1267-aootgc.
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Abstract Context.—More than 90% of testicular neoplasms originate from germ cells. Testicular germ cell tumors (GCTs) are a heterogeneous group of neoplasms with diverse histopathology and clinical behavior. Objective.—To help the readers distinguish various subtypes of GCTs, to highlight the clinical manifestations and pathologic features of these tumors, and to review several newly developed immunohistochemical markers for GCTs. Data Sources.—Review of the pertinent literature and our experience. Conclusions.—The etiology of GCTs is largely unknown. Cytogenetic studies suggest a different pathogenesis for each group of infantile/prepubertal GCTs, postpubertal GCTs, and spermatocytic seminoma. Unclassified intratubular germ cell neoplasia is the precursor of all GCTs, excluding spermatocytic seminoma and infantile/prepubertal GCTs. Seminoma, the most common GCT in adults, does not occur before 5 years of age. Spermatocytic seminoma, a tumor of elderly men, typically has an indolent clinical behavior, but rarely it undergoes sarcomatous transformation associated with an aggressive behavior. Embryonal carcinoma is the most common component in mixed GCTs. Eighty percent or more of embryonal carcinoma component and vascular invasion are recognized predictors of occult metastasis for clinical stage I mixed GCTs. Most patients with prepubertal yolk sac tumor, the most common pediatric GCT, have stage I disease at presentation. Most choriocarcinomas present with metastatic symptoms because of the propensity for rapid hematogenous dissemination. Teratomas in children regardless of maturity and dermoid cysts in adults are benign; in contrast, teratomas in adults have a malignant behavior. With appropriate therapy, the majority of testicular GCTs are curable.
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Chichagova, N. A., D. V. Gogolev, D. O. Kuzmin, et al. "Donor-derived myeloid sarcoma in a kidney transplant recipient: clinical case study and relevance of a multidisciplinary approach in therapy and diagnosis." Russian Journal of Transplantology and Artificial Organs 25, no. 4 (2023): 86–95. http://dx.doi.org/10.15825/1995-1191-2023-4-86-95.
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Background. Malignant tumors are one of the main causes of unfavorable outcomes in solid organ transplant recipients in the long term after transplantation. Localization of these tumors in a transplanted organ may cause loss of graft function. After chronic graft dysfunction and infections, malignant neoplasms come next as one of the leading causes of late kidney graft loss. The incidence of different types of malignancies varies according to the transplanted organ. Knowledge of etiology, pathogenesis, peculiarities of diagnosis and treatment of malignant tumors in solid organ transplant recipients is a significant part of screening at any stage of post-transplant period. Late diagnosis of malignancies in a transplanted kidney amidst disconnected stages of treatment and follow-up leads not only to graft loss, but also jeopardizes the life of recipients.Clinical case description. The patient is a 29-year-old female. History: IgA nephropathy with nephrosclerosis. Renal replacement therapy (RRT) with long-term hemodialysis since March 2019. Kidney transplantation from a deceased donor to the right external iliac vessels on March 13, 2019. Graft function is immediate. In October 2020, a tumor in the transplanted kidney was detected for the first time. In November 2021, an emergency graft nephrectomy was performed for health reasons. Antibacterial, antifungal therapy was carried out. Results of morphological study of the removed renal graft with immunohistochemistry (IHC) were obtained. The structure and phenotype of the tumor are consistent with myeloid sarcoma. Trephine biopsy: normocellular bone marrow.Conclusion. The 29-year-old patient was diagnosed with donor-derived myeloid sarcoma in her kidney transplant with the development of paraneoplastic syndrome and multi-organ failure. Currently, the patient is receiving RRT by long-term scheduled hemodialysis. Organ recipients need to be managed by a multidisciplinary team of specialized and highly specialized specialists, taking into account comorbid status and features of the course of the underlying disease.
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Palyvoda, P. V., and S. S. Zuykina. "The methodology for developing modified release granules based on phytoextracts for the treatment of mastopathy." News of Pharmacy 108, no. 2 (2024): 65–70. http://dx.doi.org/10.24959/nphj.24.156.
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Aim. To substantiate the scientific and methodological approach to the development of the composition and technology of granules based on phytoextracts with modified release of active substances for the complex treatment of mastopathy. Materials and methods. The research was conducted by processing electronic and paper sources of information on the etiopathogenetic factors of mastopathy, the concept of developing medicinal products with modified release of active pharmaceutical ingredients (APIs), the market analysis of medicines and dietary supplements (DS) for the treatment of mastopathy. Results. An information search has been conducted to study the etiology, pathogenesis, clinical manifestations and pharmacotherapy of breast diseases. The article presents and substantiates the stages of experimental research on the development of a medicinal product in the form of granules based on phytoextracts with a modified release of active substances, including marketing and statistical research methods of electronic and paper sources of information on the prevalence and consequences of mastopathy, development of granules based on phytoextracts with a modified release of APIs, standardization, preclinical studies of the medicinal product developed. Conclusions. The scientific and methodical approach to the development of the composition and technology of granules based on phytoextracts with a modified API release for the complex pharmacocorrection of mastopathy and prevention of the appearance of malignant neoplasms in breast tissues has been substantiated.
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Adaskevich, Vladimir P. "Pityriasis rubra pilaris: A review." Consilium Medicum 26, no. 8 (2024): 485–91. http://dx.doi.org/10.26442/20751753.2024.8.202860.
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Pityriasis rubra pilaris (PRP, syn.: Devergie's disease) is a rare idiopathic papulo-squamous inflammatory skin disease characterized by follicular papules, palmar-plantar keratoderma, scaling plaques of orange-red color with characteristic foci of unaffected skin. Histologically, the alternating pattern of orthokeratosis and parakeratosis is considered a distinctive feature of PRP (staggered hyperkeratosis). A violation of the regulation of innate immunity is a component of the pathogenesis of PRP. Congenital mutations of CARD 14 or concomitant antigens, which can take the form of iatrogenic lesions, infections or malignant neoplasms, can be the initial triggers of the disease, although the etiology is often idiopathic. There are classically five subtypes of the disease, depending on the age of onset and clinical picture. Type VI PRP is associated with infection caused by the human immunodeficiency virus. CARD 14-associated papulosquamous rash and discoid dermatitis of the face represent new clinical phenotypes of PRP. Devergie's disease has a pronounced negative impact on the quality of life, and those who become ill are at increased risk of depression and suicide. Ixekizumab, methotrexate and secukinumab can be considered as systemic drugs of the first choice. If there is a contraindication to immunosuppressive therapy, high doses of isotretinoin are recommended. Topical agents, including calcipotriene, calcineurin inhibitors, emollients and topical corticosteroids, are used as additional therapy.
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Kmyta, Oleksii, Hanna Budko, Tetyana Ivakhnyuk, and Rayan Schtainberger. "FEATURES OF ESTROGEN AND PROGESTERONE RECEPTOR EXPRESSION IN MENINGIOMAS DEPENDING ON GENDER." Eastern Ukrainian Medical Journal 12, no. 2 (2024): 398–405. http://dx.doi.org/10.21272/eumj.2024;12(2):398-405.
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Introduction. Meningiomas are non-malignant brain or spinal cord neoplasms originating from meningeal cells. The etiology of meningiomas remains insufficiently studied due to the subclinical course and relatively low incidence. Because meningiomas affect women more than twice as often as men, and there are recorded cases of the disease in pregnant women, it is advisable to investigate the role of female sex hormones in the development of this disease. Objective. Our work aimed to study the features of the expression of estrogen and progesterone receptors in meningioma tissue depending on the gender of the patients. Methods and matreials. A total of 50 samples were examined, of which 25 samples were from female patients (group W) and 25 from male patients (group M). The average age of patients in group W was 60.92±1.84 years, and group M was 59.88±3.39 years. Regardless of the equivalent indicators of average age, it is worth noting that the age of female patients varied 42 to 79 years and of male patients – 24 to 88 years. We examined the samples macroscopically, histologically and immunohistochemically (antibodies against estrogen and progesterone receptors). Results. When examined macroscopically, the meningioma had a characteristic spherical or plaque-like shape, grey colour, somewhat bumpy surface, moderate density, and fibrous structure on cross-section. During the histological examination, most samples in both groups were assigned to psammomatous or meningothelial histological subtypes, the characteristic histological patterns of which were concentric structures of flattened tumour cells and psammoma bodies. Conclusions. Immunohistochemical examination of meningioma tissue with antibodies against estrogen (ER) and progesterone (PR) receptors showed their more significant presence in samples of female patients compared to samples of male patients (p<0.001), which confirms the critical role of female sex hormones in etiology and pathogenesis meningioma.
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Bondarenko, M. A., O. V. Zaitseva, A. S. Solodovnikov, and N. M. Breslavets. "Approach to mathematical modeling of the process of carcinogenesis." Kharkiv Dental Journal, no. 2 (December 30, 2024): 180–96. https://doi.org/10.26565/3083-5607-2024-2-08.
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Background. The steady increase in the incidence and mortality rates of malignant neoplasms necessitates the integration of advanced high-tech research methods into oncology, one of which is mathematical modeling of the initiation, promotion, and progression of malignant tumors. The complexity of mathematical modeling of carcinogenesis is associated with the need to consider a significant number of factors influencing this process, as well as its specificity, multi-level nature, multi-stage progression, and varying scales. A detailed study of the molecular mechanisms underlying the process of carcinogenesis is essential for developing new approaches to describing and modeling the process of cell malignancy. Purpose – of the study is to conduct a comparative analysis of existing mathematical models of the cell malignancy process and the development of oncological diseases, as well as mathematical methods for predicting the dynamics of biological systemsʼ behavior in various types of cells during their interaction. This is intended to optimize the processes of cancer detection and treatment. Materials and Methods. The study involves an analysis of scientific data on mathematical modeling in biology and medicine, particularly in oncology, through a review of available domestic and international scientific literature. Results. The study examined the specific features of the pathogenesis of oncological diseases that must be considered in mathematical modeling of this process. It was demonstrated that mathematical modeling of biological processes has its unique characteristics, and the importance of selecting appropriate mathematical methods and tools in accordance with the modeling objectives was highlighted. A deterministic model describing the interaction between malignant tumor cells and immune cells of the body was analyzed, and its limitations were identified. Evidence supporting the necessity of employing a probabilistic approach to describe the process of carcinogenesis was presented. Conclusions. The correct choice of a mathematical modeling method for the processes of initiation, promotion, and progression of malignant tumors represents a powerful modern scientific approach to studying the etiology and development of oncological diseases. The application of mathematical modeling in oncology improves the understanding of hidden clinical patterns, enhances disease diagnosis, and enables better forecasting of disease progression, ultimately optimizing treatment strategies for cancer patients.
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Уфимцева, Марина, Marina Ufimceva, Сергей Чернядьев, et al. "FOURNIER- S GANGRENE." Actual problems in dentistry 13, no. 4 (2017): 87–91. http://dx.doi.org/10.18481/2077-7566-2017-13-4-87-91.
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Importance. Fourniers gangrene occurs as a result of infectious processes of the urogenital tract, in immunocompromised patients with diabetes, obesity, malignant neoplasms. Fournier,s gangrene progresses for two to three weeks, causing tissue destruction. The basis of the treatment of Fourniers gangrene is an emergency surgical intervention in combination with antibacterial and detoxification therapy. The article reflects the importance of differential diagnosis of Fournier,s gangrene with a complicated form of primary syphiloma (phagadenic chancre). Purpose. To demonstrate the diversity of clinical manifestations of Fourniers gangrene, treatment, differential diagnosis. Materials and methods. The literature review of materials of domestic and foreign researchers, in which the etiology, pathogenesis, clinical and laboratory picture, diagnosis, treatment, and prognosis of Fourniers gangrene using the search engines Pubmed, Medline, Cochrane, Elibrary. The authors present the clinical cases of patients with Fournier,s gangrene, clinical features of complicated chancre in a patient with primary syphilis, which are necessary for adequate differential diagnosis. Results. Since 2007 to 2016 were seven men with Fournier,s gangrene on treatment in purulent surgery Department. Patients performed the autopsy, drainage of foci of necrosis, necrectomy systemic antibiotic therapy, followed by autodermoplasty. Conclusions. Fournier,s gangrene rare and severe form of lesions of the external genitalia. The prognosis of the disease is serious and depends on timely and correct treatment. The rise of complicated cases of hard chancre. It is necessary to differentiate Fournier s gangrene with clinical manifestations of syphilis.
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Bilyi, Dmytro, Alona Hierdieva, Maksym Herhaulov, and Viacheslav Vakulyk. "Analysis of prognostic factors for feline mammary tumours (overview information)." Scientific Horizons 23, no. 10 (2020): 99–109. http://dx.doi.org/10.48077/scihor.23(10).2020.99-109.
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An analysis of the results of modern studies on the importance of clinical and pathomorphological factors as predictors of feline mammary tumours is presented. The urgency of the problem of predicting the development of cancer in this species is conditioned by the possibility of their use as biological models in human medicine, high level of incidence, significant share in the distribution of malignant types of tumours, and controversial issues of etiology and pathogenesis. Despite significant developments in the study of causal relationships with regard to mammary neoplasms, the use of different methodological approaches to assess the quantitative and qualitative characteristics of tumours, often in combination with insufficient sampling in groups does not allow to objectively assess the degree of malignancy and invasive potential both in a particular animal and in a group of patients, and therefore – to predict their behaviour. Generalization of available information on the peculiarities of the clinical course and pathomorphological changes in mammary tumours is necessary for further formation of a unified register of neoplasms in cats, which will be the basis for better understanding of the mechanisms of carcinogenesis, identification of promising biological targets, development and clinical implementation of pathogenetically based effective protocols for the treatment and prevention of cancer in cats. The lack of a unified approach to the verification of neoplasions makes it difficult, and in some cases impossible, to use cancer such predictors as histologic type, tumour size, clinical stage, angio- and lymphoinvasion, patient life expectancy and recurrence-free period as independent predictive factors. A large amount of clinical material has been accumulated, mainly presented in a descriptive form, without correlation with other causative factors. Along with the indicated predictors of carcinogenesis, in recent years, the role of cyclooxygenase-2 expression in the mechanisms of development and progression of feline mammary tumors has been actively studied, the influence on which allows obtaining a complex (multidirectional) therapeutic effect. Prospects for further research are the unification of clinical and pathomorphological diagnostic criteria and the establishment of a database of cats with cancer
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Lipilkin, P. V., E. D. Kulaeva, A. N. Zeltser, S. V. Mordanov, and Yu V. Shatokhin. "Myelodysplastic syndrome: epidemiology, diagnostics and epigenetic disorders." Medical Herald of the South of Russia 13, no. 2 (2022): 179–90. http://dx.doi.org/10.21886/2219-8075-2022-13-2-179-190.
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Myelodysplastic syndrome is a group of myeloid neoplasms that arise from the action of damaging factors on hematopoietic stem cells, which are based on somatic mutations, which leads to the formation of clonal hematopoiesis. we know from epidemiological data that old age, male gender, and smoking are in themselves independent risk factors for myelodysplastic syndrome. These factors can potentiate the occurrence of mutations in the genome. In young people and children, myelodysplastic syndrome is a direct consequence of genetic abnormalities. There is an assumption that epigenetic regulatory genes are subject to frequent mutations. The chromatin of malignant cells acquires epigenetic abnormalities affecting tumor resistance, which explains their response to treatment with epigenetic drugs in combination with other therapies The appearance of new mutations potentiates hematopoiesis, which is accompanied by the shutdown of apoptosis and the transformation of myelodysplastic syndrome into acute myeloid leukemia. It is suggested that mutations in the genes of epigenetic regulators have functional effects on pluripotent hemopoietic stem cells. Epigenetic profiling of patients had a significant impact on understanding the molecular basis of etiology, pathogenesis, and patterns of transformation of myelodysplastic syndrome into acute myeloid leukemia, but it is not known which genes are the most clinically significant for their final use in laboratory diagnostics and targeted hypomethylating therapy. Despite the multitude of mutations in epigenetic regulators in myelodysplastic syndrome, the creation of prognostic models based on them requires a detailed study that includes not only analysis of the frequency of such mutations, but also the establishment of a relationship with clinically significant outcomes. The aim of this review is to study the prevalence of the mutational status of epigenetic regulation in patients with myelodysplastic syndrome.
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Romashkina, Anastasia S., Elena S. Snarskaya, and Anna M. Shpak. "Leser–Trelat sign in cosmetologist’s practice." Russian Journal of Skin and Venereal Diseases 26, no. 1 (2023): 5–12. http://dx.doi.org/10.17816/dv119853.
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LeserTrelat syndrome (eruptive seborrheic keratosis) is an unusial paraneoplastic dermatosis characterized by sudden appearance of seborrheic keratomas on the skin and a progressive increase of their number. This condition was first described in 1901 by the German surgeon E. Leser and the French surgeon U. Trelat. It occurs with the same frequency in both men and women aged 40+. The etiology and pathogenesis have not been studied in detail, however, there is evidence that the development of the syndrome may be associated with stimulation of the epidermal growth factor, which leads to stimulation of keratinocytes. The manifestation of the syndrome is usually start at the same time with cancer development, mostly it can be combained with adenocarcinoma of the gastrointestinal tract (47.7%), with intestinal carcinoma (32%), with lymphoproliferative diseases (21%), less often with malignant neoplasms of the lungs, breast, prostate.
 The clinical picture of the LeserTrelat sign is characterized by the sudden appearance оf seborrheic keratomas, which have typical clinical and histological signs. The most typical localization of seborrheic keratosis are back and chest (76%), limbs (18%), face (21%), abdomen (15%), neck (13%), armpits (6%), inguinal folds (3%). Keratosis can appear rapidly, over several months or even weeks. The rapid appearance of multiple seborheic keratomas may precede or develop with the oncological process in the internal organs.
 Treatment is carried out at the same time with the establishment and treatment of the underlying disease and consists in removing the largest keratomas by destructive methods (surgical excision, radiowave method, cryodestruction, electrocoagulation).
 The prognosis is favorable if paraneoplastic process was early detected.
 The article describes clinical cases of multiple seborrheic keratosis and the tactics of examining this group of patients.
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Startsev, V. Yu, G. V. Kondratiev, and A. E. Balashov. "Clinical and pathological features of urothelial carcinoma in pediatric practice." Experimental and Сlinical Urology 13, no. 4 (2020): 18–22. http://dx.doi.org/10.29188/2222-8543-2020-13-4-18-22.
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Introduction. This review of the literature presents the results of the analysis of studies on the etiology, pathogenesis, methods of diagnosis and treatment of urothelial carcinoma in persons under 20 years of age. Worldwide, the number of such patients is small, and special programs of treatment and diagnostic measures, as well as molecular genetic panels for these patients have not yet been developed. Materials. Relevant publications indexed in PubMed, Web of Sciences Core Collection, and Journal Citation Reports were searched. Data on risk factors and molecular-genetic changes that contribute to malignancy of the urinary epithelium, early clinical manifestations, as well as features of radiation, endoscopic, morphological diagnostics and treatment of this class of tumors are analyzed. Results. Risk factors for urothelial carcinoma in patients younger than 20 years and older age groups are similar, however, there is a smaller role of occupational factors in young patients. Differences in the molecular subtype of tumors were found in these age groups with a predominance of urothelium-like subtype A among young patients, which leads to a more favorable prognosis of the disease and a lower rate of recurrence in individuals under 20 years of age. The main method of treatment of these neoplasms in both age groups remains transurethral resection of the bladder (TURMP), which allows radical removal of the tumor. Adjuvant treatment involving intra – bubble or systemic chemo-or immunotherapy in the postoperative period is indicated when detecting tumors with a high malignant potential, due to the risk of its metastasis and the high probability of the need for organ-carrying surgery. In clinical practice, recommendations developed for the treatment of cancer patients in the older age group are used, since there are no special guidelines for the diagnosis, treatment, and follow-up of younger patients. Conclusions. The development of methods for the timely diagnosis, treatment and Rehabilitation of children's patients with verified bladder tumors by representatives of the medical community (oncologists, oncologists, pediatricians) remains an urgent task in the near future.
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Blanca, William Torres, Lygia Fernandes Gundim, Thaís De Almeida Moreira, Taís Meziara Wilson, and Alessandra Aparecida Medeiros-Ronchi. "Discrepancy between Clinical and Postmortem Diagnosis of Dogs in a Veterinary Medical Teaching Hospital." Acta Scientiae Veterinariae 45, no. 1 (2017): 5. http://dx.doi.org/10.22456/1679-9216.79773.
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Background: The postmortem examination offers the opportunity to study the processes involved in disease. Although a portion of veterinary medical professionals and students consider the necropsy as a diagnostic tool of purely academic interest, it can provide valuable assistance in formulating health strategies in order to prevent and control animal diseases. The number of necropsies performed in general is higher in universities where the cost is subsidized. In veterinary medicine, studies intended to assess the frequency of necropsy and the discrepancy between clinical and postmortem diagnosis of dogs are rare. The main purpose of the necropsy is to discover the cause of death of dogs, by defining a possible etiology and pathogenesis in order to reach a diagnosis.Material, Methods & Results: We used medical records and necropsy records to define the clinical and postmortem diagnosis, respectively. Data relating to deaths was recorded as the number of euthanized dogs and natural deaths in 2014. From the information cause of death, these were categorized as infectious disease, cardiac, gastrointestinal, renal, pulmonary, neurological, metabolic or endocrine disease, neoplastic disease, trauma, or systemic disease. We used the Binomial discrepancy in the comparison of the rates between different years and also to verify the association between discrepancy and the correlation between clinical and postmortem diagnosis of dogs with euthanasia and natural death, with statistical significance (P < 0.05). In 2009, 56.81% (25/44) of cases included in the study had a concordance between the clinical and postmortem diagnosis, while 43.19% (19/44) were discordant. In 2014, it was observed that 71.70% (76/106) of the diagnosis was confirmed with the necropsy, while 28.30% (30/106) were discordant. The disagreement rate was higher in 2009 (P < 0.05) and there was a reduction of 14.89% in the disagreement rate between 2009 and 2014. Regarding the cause of death, infectious diseases, gastrointestinal disease, and heart disease were the categories in which the discrepancy was higher. It was found that in the group of dogs euthanized, the discrepancy rate was lower compared with the group of dogs that had anatural death (P < 0.05).Discussion: The disagreement rate can be considered high when compared with a veterinary study and similar to those observed in a human study. Decrease in the discrepancy rate in the years, as observed by other authors, that can be attributed to improvements and expansion of diagnostic services of the hospital and better training of veterinarians. The difficulty in determining the etiology of infectious diseases is associated with lack of specific diagnostic tests and the high cost of available tests, which often is not bank rolled by the tutor. Dogs in this study were rarely submitted to diagnostics tests such as electrocardiogram or echocardiogram which explains the high discordance in the diagnosis of heart disease. Distemper is an infectious disease of great importance regarding euthanized animals, especially in cases that progress to central nervous system injuries with extremely poor prognosis and wind up having euthanasia indication. Another common cause of domestic animals euthanasia indication is the occurrence malignant neoplasms, which depends on the progression of the disease and psychological and social conditions of the owner. The results generated herein suggests that infectious, gastrointestinal and cardiac diseases origin tend to have a greater discordance between clinical and postmortem diagnosis, however this rate is decreasing due to improved infrastructure of veterinary centers with better professionals qualification.
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Ali, Elrazi Awadelkarim, Kamran Mushtaq, Sundus Sardar, Elabbass Abdelmahmuod, and Mohamed A. Yassin. "Gastrointestinal Manifestations of CML: A Systematic Review." Blood 138, Supplement 1 (2021): 4609. http://dx.doi.org/10.1182/blood-2021-146322.
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Abstract Introduction Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by overproduction of mature granulocytes. Up to half of the patients are asymptomatic and diagnosed during routine blood investigations; others present with fatigue and non-specific symptoms. Many patients develop gastrointestinal manifestations such as abdominal pain, bloody diarrhea, and pancreatitis during the disease course. Some presentations are related to leukemia itself, while others may be related to CML treatment. Methods We searched the English literature (PubMed, SCOPUS, and Google Scholar) for studies, reviews, case series, and case reports of patients with CML who developed any gastrointestinal manifestations involving the gastrointestinal tract from the esophagus down to the rectum Inclusion criteria comprised of patients above 18 years of age, with CML and gastrointestinal features. Pregnant women and bone marrow transplant recipients were excluded. Search terms included chronic myeloid leukemia, chronic myelogenous leukemia, with esophagitis, pancreatitis, duodenitis, gastritis, Crohn's disease, ulcerative colitis, inflammatory bowel disease, hepatocellular carcinoma, cholangiocarcinoma, colon cancer, malignancy, hepatitis, primary biliary cholangitis, primary biliary cirrhosis, primary sclerosing cholangitis, and perforation. Results A total of 129 patients were included. Patient characteristics are shown in table 1. Among the gastrointestinal manifestations, the most common treatment-related complications were drug-related hepatitis followed by reactivation of viral hepatitis B, pancreatitis, and typhlitis. Hepatitis in CML was reported with different TKIs but more commonly with imatinib. Reactivation of viral hepatitis B was common, while hepatitis C reactivation was rarely reported. Pancreatitis was associated mostly with nilotinib. Colitis is seen mainly with dasatinib. Inflammatory bowel diseases, liver diseases such as primary biliary cholangitis (PBC), were variable; some occurred after CML diagnosis while others preceded the diagnosis. Malignancies like pancreatic adenocarcinoma and hepatocellular carcinoma occurred after CML. Discussion Gastrointestinal features in patients with chronic myeloid leukemia can be the first presenting featuring of leukemia itself, arising during the course of CML or as a complication of the treatment. Interestingly, most of these presentations have been reported in patients with CML. These include inflammatory conditions such as pancreatitis and esophagitis, reactivation of viral hepatitis to the neoplastic process, and malignancy. In patients with CML, malignant tumors in the gastrointestinal tract can be caused by leukemic infiltration. Moreover, like other myeloproliferative neoplasms, CML confers a risk of developing a second non-hematological malignancy, including colonic neoplasms. Gastrointestinal complications can pose drastic impacts throughout the disease course; they may result in a change in the treatment, affect the prognosis, and may also be fatal, as in severe enterocolitis or fulminant liver failure. The treatment goal in patients with CML has changed significantly over the last decades. The current treatment goal is to achieve normal survival and good quality of life without the need for lifelong treatment. The improvement in CML treatment and prognosis is largely attributed to the introduction of tyrosine kinase inhibitors. However, most gastrointestinal features associated with treatment are related to tyrosine kinase. The exact pathogenesis of TKI injury is unclear but likely attributed to immune-related mechanisms. Imatinib is the first-line therapy for CML and is the most widely used TKI; however, not all the gastrointestinal features are associated with imatinib as expected. Various gastrointestinal features are prominent with other TKIs as well. Appropriately identifying which TKI is the likely trigger will help in avoiding highly suspected gastrointestinal complications or guide in switching to a safer TKI, thereby achieving treatment goals. Conclusion Patients with chronic myeloid leukemia can have a different gastrointestinal presentation which can alter their disease course. Such complications must be managed appropriately in order to improve outcome and quality of life in this group of patients and maintain treatment goals. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.
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Tian, Zheng, Ya Zhang, Hua Wang, Liyan Lu, and Xin Wang. "PRMT1 Promotes Chronic Lymphocytic Leukemia Progression Via Modulating Methylation of MAST1." Blood 142, Supplement 1 (2023): 4628. http://dx.doi.org/10.1182/blood-2023-183058.
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Introduction As a member of the protein arginine N-methyltransferase family, protein arginine methyltransferase 1 (PRMT1) plays a crucial regulatory role in the etiology of malignant neoplasms. PRMT1-mediated protein methylation promoted the maintenance of acute myeloid leukemia, which revealed the promising potency of PRMT1 inhibitors. Recent study suggested that dysregulation of PRMT5 promotes Richter's transformation in chronic lymphocytic leukemia (CLL). However, the effects of PRMT1 in the tumorigenesis and progression of CLL still remained ill-defined. Hence, the aim of this study was to investigate the clinical significance and mechanisms of PRMT1 underlying the development of CLL. Methods Peripheral blood samples were collected from 79 newly diagnosed CLL patients (47 males and 32 females; age range 39-85 years, median 63 years) in Shandong Provincial Hospital CLL (SPHCLL) cohort with informed consent. CRISPR-Cas9 technology was used to stably knockout PRMT1 in CLL cells. A label free quantitative proteomics analysis was implemented to reveal the protein methylation mediated by PRMT1. Assessment of cell viability, apoptosis and cell cycle were analyzed by cell counting kit-8, annexin V-PE/7AAD and PI/ RNase staining, respectively. This study was approved by the Medical Ethics Committee of Shandong Provincial Hospital. Results This study examined the expression of PRMT1 in SPHCLL and GEO databases, and discovered the upregulation of PRMT1 mRNA in CLL cells. Aberrantly elevated expression of PRMT1 was observed in a cohort of newly diagnosed CLL patients than healthy donors in mRNA level (donors vs. CLL patients, 0.07±0.06 vs. 0.20 ±0.21, p=0.013). Furthermore, increased expression of PRMT1 was correlated with inferior prognosis in two long-term follow-up cohorts of CLL patients (HR=2.80, p=0.002, and HR=1.551, p=0.009). To elucidate the functional significance of PRMT1 in CLL, we established stable PRMT1 knockdown cells using lentiviral shRNAs and PRMT1 knockout cells using CRISPR/Cas9 technology. The suppression of PRMT1 remarkably inhibited cell proliferation, induced cell apoptosis and blocked cell cycle at G1/S phase in CLL cells. Furthermore, it was observed that C7280948, a selective inhibitor of PRMT1, resulted in the defective proliferation of CLL primary cells in a dose-dependent manner. We subsequently performed pre-clinical investigations of C7280948 in the orthotopic CLL xenograft murine model. Notably, the administration of C7280948 significantly diminished the leukemia burden and induced the lessened degree of splenomegaly in comparison to the control group (Fig. 1A). Moreover, a reduction in the population of CLL cells was detected in bone marrow and spleen of mice treated with C7280948. To decipher the role of PRMT1 in the pathogenesis of CLL, the label free quantitative proteomics analysis was conducted on PRMT1-deficent and control MEC1 cells. Knockdown of PRMT1 diminished asymmetric dimethylarginine of some proteins in CLL cells. In accordance with the results of proteomics analysis, microtubule associated serine/threonine kinase 1 (MAST1) was selected as a candidate target for further investigation. The methylation site of MAST1 protein was identified as R802 (Fig. 1B). Increased expression of MAST1 was correlated with inferior prognosis of CLL patients ( p&lt;0.001), indicating the essential role of MAST1 in the progression of CLL. These results supported the hypothesis that PRMT1 interacted with MAST1 and enhanced the activity of MAST1 via methylating this oncoprotein in CLL cells. Conclusion The present study provides robust evidence for the oncogenic function of PRMT1 in the pathogenesis of CLL, highlighting the potential therapeutic efficacy of the selective PRMT1 inhibitor C7280948. Collectively, the targeted inhibition of PRMT1 exhibits promising prospects for the management of CLL patients.
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Kewan, Tariq, Ramsha Ahmed, Carmelo Gurnari, et al. "Co-Occurrence of MDS with MGUS Represents a Unique Disease Entity with Specific Molecular Phenotype and Potential Improved Clinical Outcome." Blood 138, Supplement 1 (2021): 1529. http://dx.doi.org/10.1182/blood-2021-151858.
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Abstract Myelodysplastic syndrome (MDS) has been associated with co-occurring ailments of various origin. In particular, rheumatologic disorders (Felty's syndrome, VEXAS), malignancies such as LGL (large granular lymphocytosis) and pre-malignant conditions like MGUS (monoclonal gammopathy of undetermined significance) are among the most frequent. For instance, the co-occurrence of MDS and MGUS is identified in about 10-15% of all MDS presentations. MGUS is a disorder that almost always precedes the development of multiple myeloma and is characterized by the production of monoclonal M protein. The microenvironment created in the bone marrow of MDS patients may pave the way for the progression and development of inflammatory and neoplastic diseases (or vice versa) but the understanding of this pathogenesis is yet to be firmly elucidated. We studied a cohort of 1627 MDS and secondary AML patients (median age 69 years, IQR:61-76) and retrospectively searched for the diagnosis of MGUS or multiple myeloma. The main aim of our study was to characterize the unique molecular, clinical, and phenotypic features of MDS patients who develop co-occurring plasma cell dyscrasias in an attempt to identify patients at higher risk for the development of this dyad as well as to investigate any underlying pathogenesis. Overall, we identified 97 (6%) patients with MGUS, 19 (1%) with multiple myeloma and 2 (0.1%) with smoldering myeloma. The median age of patients diagnosed with concurrent MDS/MGUS was 72.6 years and was significantly higher than that registered in the non-MGUS cohort (p=0.001). When expanding our investigation to patients with myeloid disorders of any type, patients diagnosed with concurrent myeloid neoplasms/MGUS (versus those without MGUS ) were found to more often have s-AML (31% vs 26%) and MDS-SLD (13% vs. 8%), and less likely to have MDS-MLD (12% vs. 18%), and had similar rates of MDS/MPN (15% vs.14%), MDS-5q (7% vs. 6%), RAEB-1 (7% vs. 7%), RAEB-2 (4% vs. 9%), CMML-1 (5% vs. 7%), and MDS-U (4% vs. 3%). Complex karyotype was identified in 7% of patients diagnosed with MDS/MGUS (vs.18% in the non MGUS cohort, p=0.05). Deletion of the chromosome 20 was identified in 3% of MDS/MGUS cohort vs. 7% of non-MGUS cohort and 5% of MDS patients. Monosomies of either chromosomes 5 and 7 were not found to be different between the MDS and MGUS/MDS cohorts (p=0.412 and 0.963, respectively). Evaluation of the molecular profiles between patients diagnosed with concurrent MDS/MGUS versus MDS alone showed that patients in the MDS/MGUS cohort were more likely to have mutations of CEBPA (4% vs. 2%, p =0.05) and STAT3 (3% vs. 0.4% , p=0.001), and were not different as of mutation frequencies for the most commonly mutated genes such as DNMT3A (15% vs.11%), FLT3 (4% vs. 3%), IDH1 (6% vs. 3%), IDH2 (5% each), JAK2 (11% vs. 7%), RUNX1 (10% vs. 10%), SF3B1(14% vs. 10%), SRSF2 (16% vs. 13%), CUX1 (6% vs. 4%), DDX41 (3% vs. 0.5%) and TET2 (20% each). When looking at disease outcomes, patients with MDS/MGUS were characterized by better survival as compared to those belonging to the non-MGUS cohort (median 13 vs 9 months, HR: 0.677, 95%CI: 0.525-0.872, p=0.003). In addition, a multivariate analysis model (including the variable mentioned) showed that the occurrence of the MGUS/MDS combination (HR: 0.710, 95%CI: 0.568-0.937, p=0.008), SF3B1 (HR: 0.7, 95%CI: 0.561-0.970, p=0.002), RUNX1 (HR: 1.5, 95%CI:1.236-1.945, p&lt;0.001), TP53 mutation (HR: 1.4, 95%CI:1.196-1.750, p&lt;0.001), and complex karyotype (HR: 2.3, p&lt;0.001), were all significant predictors of overall survival. In conclusion, based on our study MGUS/MDS overlap may be a unique disorder with noted molecular and phenotypic features. The overall survival of patients with MDS/MGUS appears to be better than that of non-MGUS/ MDS patients. Furthermore, the identification of patients with MDS/MGUS dyad may be under-estimated with a possible missed diagnosis of a co-existing condition and mis-classification of MDS patients. In particular, our results call for a broad screening for plasma cell dyscrasias in MDS populations, especially if the presence of such conditions might be a marker of improved outcome. Validation and etiology for this improved observed outcomes warrants further investigation in order to shed light onto this unique disease entity. Disclosures Saunthararajah: EpiDestiny: Consultancy, Current holder of individual stocks in a privately-held company, Membership on an entity's Board of Directors or advisory committees, Patents & Royalties. Patel: Apellis: Consultancy, Other: educational talks, Speakers Bureau; Alexion: Consultancy, Other: educational talks, Speakers Bureau. Mukherjee: Blueprint Medicines: Membership on an entity's Board of Directors or advisory committees; Novartis: Consultancy, Membership on an entity's Board of Directors or advisory committees, Other: Research/Independent Contractor, Research Funding; McGraw Hill: Honoraria, Other: Editor of Hematology Oncology Board Review (ongoing); Bristol-Myers Squibb Co.: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Partnership for Health Analytic Research: Honoraria; AbbVie: Membership on an entity's Board of Directors or advisory committees; Celgene Corporation: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Research/Independent Contractor, Research Funding; Acceleron: Membership on an entity's Board of Directors or advisory committees; AAMDS in Joint Partnership with Cleveland Clinic Taussig Cancer Institute: Honoraria; Eusa Pharma: Consultancy, Membership on an entity's Board of Directors or advisory committees, Other: Teaching and Speaking; Jazz Pharmaceuticals: Research Funding; BioPharm: Consultancy; Genentech: Membership on an entity's Board of Directors or advisory committees. Gerds: Constellation: Consultancy; AbbVie: Consultancy; Brystol Myers Squibb: Consultancy; Sierra Oncology: Consultancy; Novartis: Consultancy; PharmaEssentia: Consultancy; Incyte: Research Funding; Constellation: Research Funding; Krtos: Research Funding; CTI Biopharma: Research Funding; Imago: Research Funding; Accutate: Research Funding. Advani: OBI: Research Funding; Amgen: Membership on an entity's Board of Directors or advisory committees, Research Funding; Abbvie: Research Funding; Immunogen: Research Funding; Seattle Genetics: Membership on an entity's Board of Directors or advisory committees, Research Funding; Pfizer: Honoraria, Research Funding; Kite Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees, Research Funding; Macrogenics: Research Funding; Glycomimetics: Membership on an entity's Board of Directors or advisory committees, Research Funding. Maciejewski: Regeneron: Consultancy; Novartis: Consultancy; Bristol Myers Squibb/Celgene: Consultancy; Alexion: Consultancy. Carraway: Jazz: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Novartis: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Agios: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Bristol Myers Squibb: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Celgene, a Bristol Myers Squibb company: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau; Takeda: Other: Independent review committee; Stemline: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; AbbVie: Other: Independent review committee; Astex: Other: Independent review committee.
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Sohal, Davendra, Weijing Sun, and Daniel Haller. "Pancreatic, Gastric, and other Gastrointestinal Cancers." DeckerMed Family Medicine, February 11, 2021. http://dx.doi.org/10.2310/fm.1182.
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According to 2009 estimates from the American Cancer Society, cancers originating in the gastrointestinal tract rank second in both incidence and cancer-related deaths. One in four deaths in the United States is caused by cancer, with 25% of cancer-related deaths caused by gastrointestinal (GI) malignancies; more than 50% of these deaths are caused by cancer of the pancreas, stomach, esophagus, liver, or biliary tract. Recent advances in molecular biology, medical genetics, and imaging and endoscopic techniques, as well as the development of antitumor agents, have significantly altered the approaches to the prevention, diagnosis, and treatment of GI cancers. The chapter covers esophageal, gastric, pancreatic, hepatocellular, biliary tract, and anal cancers, as well as GI stromal tumors and gastric lymphoma. Coverage of all cancers includes diagnosis and treatment; various sections include information on epidemiology, etiology, risk factors, screening and prevention, molecular mutations, pathogenesis, and/or metastatic disease. Figures depict a barium esophagogram showing squamous cell carcinoma; imaging of esophageal cancer, gastric cancer, and pancreatic cancer; a pedigree of a family with inactivation of germline mutation of E-cadherin; hereditary gastric cancer; gastric cancer survival rates after gastrectomy; axial T1-weighted magnetic resonance imaging (MRI) showing cancer of the pancreatic head; and T1- and T2-weighted MRIs of intrahepatic bile duct carcinoma. Tables provide information on new cases and mortality from GI cancer in 2009; guidelines for diagnosis and surveillance of Barrett esophagus; the declining incidence of gastric cancer in Japan, Slovenia, and the United States; TNM staging of gastric cancer, pancreatic cancer, and hepatocellular carcinoma; the incidence of familial pancreatic carcinoma; molecular mutations involved in pancreatic cancer; staging of pancreatic intraepithelial neoplasia; and the Chinese University Prognostic Index. This review contains 9 figures, 39 tables, and 173 references. Keywords: biliary cancer, carcinoma, endoscopic, esophageal, gastric, hepatic, lesions, lymphoma, malignant, mutations
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Sohal, Davendra, Weijing Sun, and Daniel Haller. "Pancreatic, Gastric, and other Gastrointestinal Cancers." DeckerMed Medicine, February 11, 2021. http://dx.doi.org/10.2310/im.1182.
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According to 2009 estimates from the American Cancer Society, cancers originating in the gastrointestinal tract rank second in both incidence and cancer-related deaths. One in four deaths in the United States is caused by cancer, with 25% of cancer-related deaths caused by gastrointestinal (GI) malignancies; more than 50% of these deaths are caused by cancer of the pancreas, stomach, esophagus, liver, or biliary tract. Recent advances in molecular biology, medical genetics, and imaging and endoscopic techniques, as well as the development of antitumor agents, have significantly altered the approaches to the prevention, diagnosis, and treatment of GI cancers. The chapter covers esophageal, gastric, pancreatic, hepatocellular, biliary tract, and anal cancers, as well as GI stromal tumors and gastric lymphoma. Coverage of all cancers includes diagnosis and treatment; various sections include information on epidemiology, etiology, risk factors, screening and prevention, molecular mutations, pathogenesis, and/or metastatic disease. Figures depict a barium esophagogram showing squamous cell carcinoma; imaging of esophageal cancer, gastric cancer, and pancreatic cancer; a pedigree of a family with inactivation of germline mutation of E-cadherin; hereditary gastric cancer; gastric cancer survival rates after gastrectomy; axial T1-weighted magnetic resonance imaging (MRI) showing cancer of the pancreatic head; and T1- and T2-weighted MRIs of intrahepatic bile duct carcinoma. Tables provide information on new cases and mortality from GI cancer in 2009; guidelines for diagnosis and surveillance of Barrett esophagus; the declining incidence of gastric cancer in Japan, Slovenia, and the United States; TNM staging of gastric cancer, pancreatic cancer, and hepatocellular carcinoma; the incidence of familial pancreatic carcinoma; molecular mutations involved in pancreatic cancer; staging of pancreatic intraepithelial neoplasia; and the Chinese University Prognostic Index. This review contains 9 figures, 39 tables, and 173 references. Keywords: biliary cancer, carcinoma, endoscopic, esophageal, gastric, hepatic, lesions, lymphoma, malignant, mutations
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Jajoo, Kunal, and Sravanya Gavini. "Barrett Esophagus." DeckerMed Gastroenterology, Hepatology and Endoscopy, May 1, 2015. http://dx.doi.org/10.2310/gastro.5426.
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Barrett esophagus is the condition in which normal stratified squamous epithelium of the esophagus is replaced by metaplastic columnar epithelium, which may predispose to development of malignancy. This metaplasia is thought to be a reparative mechanism to cope with reflex esophagitis induced by chronic gastroesophageal reflux disease. Barrett esophagus is associated with an increased risk of esophageal adenocarcinoma (EAC), although the more recent studies have shown that the risk of progression to malignancy is lower than was initially postulated. Endoscopic screening and surveillance are still warranted for early detection of dysplasia and neoplasia and prevention of EAC. This review looks at Barrett esophagus in detail, including its epidemiology and risk factors, etiology and pathogenesis, clinical presentation and symptoms, diagnosis, differential diagnosis, treatment, complications, and prognosis. Figures show images of Barret esophagus, endoscopic mucosal resection of nodule associated with Barrett esophagus, and focal radiofrequency ablation; a schematic of using Prague circumferential (C) and maximal extent (M) criteria to classify and report Barrett esophagus; and a proposed management algorithm for patients with Barrett esophagus. Tables list risk factors associated with Barrett esophagus and neoplastic progression to EAC, guidelines for screening and surveillance, and endoscopic eradication therapies. A list of useful Web sites relating to Barrett esophagus is also presented. This review contains 5 highly rendered figures, 3 tables, and 33 references.
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Ma, Mingyang, Kun Shang, Jiewei Wang, Xiaojing Teng, Peng Li, and Jing Wang. "A patient with multiple primary malignant neoplasms with high variant allele frequencies of RB1, TP53, and TERT." Biomarker Research 12, no. 1 (2024). http://dx.doi.org/10.1186/s40364-024-00567-z.
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AbstractMultiple primary malignant neoplasms are a rare disease with tumors of different histology or morphology arising in various sites. Next-generation sequencing is essential in the etiology, diagnosis, treatment, and surveillance of this disease. No eight primary malignant neoplasm cases with high variant allele frequencies of RB1, TP53, and TERT have been reported. Herein, we report a 65-year-old male who exhibited eight primary malignancies of the vocal cord, pharynx, kidney, mouth floor, esophagus, and urinary bladder with different pathological types. The first seven tumors were early-stage tumors; the last tumor, small cell carcinoma of urinary bladder, showed liver metastasis at diagnosis. Next-generation sequencing results revealed extremely high somatic variant allele frequencies of RB1 c.1472 T > C, TP53 c.576A > G, and TERT c.-58-u66C > T (95.5%, 95.1%, and 51.0%, respectively). No germline mutations were detected. These findings denoted a heavy tumor burden and poor prognosis. This is the first report of eight primary malignant neoplasm cases with high variant allele frequencies of RB1, TP53, and TERT.
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Anthony, Michelle, Natalia Chalupczak, Amritpal Kooner, Christopher Farkouh, Parsa Abdi, and Conor Dolehide. "Understanding Brooke-Spiegler syndrome and its dermatologic manifestations: A scoping review." Clinical Dermatology and Surgery 2, no. 2 (2024). http://dx.doi.org/10.61853/65qe0f40.
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Introduction Brooke-Spiegler syndrome (BSS), or turban tumor syndrome, is a rare condition characterized by multiple cutaneous adnexal neoplasms, usually spiradenoma, cylindroma, spiradenoma cylindroma, and trichoepithelioma. Objective This comprehensive scoping review overviews the rare syndrome BSS's epidemiology, etiology, clinical features, pathogenesis, and treatment. Methods Two independent reviewers screened PubMed, Embase, and Scopus databases to identify all documented articles and studies about BSS with the search terms “Brooke-Spiegler syndrome,” “turban tumor syndrome,” “epidemiology,” “etiology,” “clinical features,” “pathogenesis,” and “treatment.” Results 457 articles were included for analysis after screening and review of full texts. Brooke-Spiegler Syndrome is inherited in an autosomal dominant pattern due to a mutation in the CYLD tumor suppressor gene located on chromosome 16q12.1, which plays a vital role in tumor suppression through the NF-κB signaling pathway. This mutation predisposes individuals, particularly females in their 2nd to 3rd decades of life, to develop 10-30 or several hundred cutaneous adnexal neoplasms on the head and neck. The clinical manifestations of BSS vary, but spiradenomas, cylindromas, and trichoepitheliomas are expected, with a small percentage of cases showing potential for malignant transformation. BSS has two phenotypic variants, Multiple Familial Trichoepitheliomas, and Familial Cylindromatosis, and the term CYLD Cutaneous Syndrome encompasses all three syndromes. Neoplasms of the breast and salivary gland have also been reported. Treatment for associated neoplasms typically involves surgical excision, although other modalities such as laser, photodynamic therapy, dermabrasion, and cryosurgery are also being used. Conclusion These findings have significant implications for diagnosing, treating, and a more comprehensive understanding of BSS.