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Cavallaro, Giuseppe, Ursula Basile, Andrea Polistena, et al. "Surgical Management of Abdominal Manifestations of Type 1 Neurofibromatosis: Experience of a Single Center." American Surgeon 76, no. 4 (2010): 389–96. http://dx.doi.org/10.1177/000313481007600416.
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Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and nonneoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. The mainly involved districts are skin, the central nervous system, and eye and there is a wide range of severity of clinical presentations. Abdominal manifestations of NF1 include five kinds of tumors: neurogenic tumors (neurofibromas, malignant peripheral nerve sheath tumors [MPNSTs], and ganglioneuromas); neuroendocrine tumors (pheochromocytomas and carcinoids); nonneurogenic gastrointestinal stromal tumors (GISTs); embryonal tumors; and miscellaneous. The present experience depends on the participation in the National Project for Diagnosis and Treatment of Rare Diseases. In the group of patients with a diagnosis of von Recklinghausen disease, 10 patients underwent surgical treatment for gastrointestinal and retroperitoneal tumors associated with NF1. Three patients underwent adrenalectomy for pheochromocytoma (in one case associated with jejunal wall neurofibroma); two patients were found to be affected by MPNST (recurrent and unresectable in one case). One patient was affected by giant gastric GIST and jejunal neurofibroma; two patients were affected by extraperitoneal neurofibroma (pararenal and pararectal position); one patient was affected by giant colic neurofibroma and one patient was affected by retroperitoneal bilateral plexiform neurofibromas. Early diagnosis of these abdominal manifestations is very important because of the risk of malignancy, organic complications (such as pheochromocytoma), or hemorrhagic–obstructive complications such as in case of tumors of the gastrointestinal tract (GISTs and neurofibromas). The importance of an annual clinical evaluation on the part of a multidisciplinary pool of clinicians in highly specialized centers allows early detection of complications and of neoplastic transformation. Genetic screening allows preclinical diagnosis with a sensibility of 95 per cent. Further studies are necessary to detect predictive factors of malignant tumor development of severe clinical conditions.
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Kim, Dmitriy, Elizabeth George, Maheshwari Nalla, and Subin Chirayath. "A rare case of a solitary perianal neurofibroma." International Surgery Journal 5, no. 7 (2018): 2633. http://dx.doi.org/10.18203/2349-2902.isj20182787.
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Neurofibromas are benign nerve sheath tumors commonly associated with Neurofibromatosis type 1 (NF1). In patients without the diagnosis of the NF1, these lesions are referred to as solitary neurofibromas. Gastrointestinal involvement is exceedingly rare in NF1 and can manifest in a variety of different ways. This case report involves a 50-year-old hispanic female with an isolated neurofibroma of the perianal region in the absences of any medical or family history of NF1. Since there are very few cases of solitary neurofibromas reported in literature, it is important to document such cases and follow patients with this disease closely given that it can be an initial presentation of NF1 and because of its possible malignant potential.
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Ahn, Soomin, Choon Sik Chung, and Kyoung-Mee Kim. "Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor." Case Reports in Gastroenterology 10, no. 3 (2016): 674–78. http://dx.doi.org/10.1159/000452202.
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Gastrointestinal neurofibroma usually develops as diffuse gastrointestinal involvement in neurofibromatosis type 1 patients. Only 4 cases of sporadic colonic neurofibroma in a patient without neurofibromatosis type 1 have been reported in the English literature. A 26-year-old female patient underwent colonoscopy, and a 4-cm-sized polypoid mass was identified in the sigmoid colon. Wedge resection of the mass showed a yellowish, hard submucosal tumor. Microscopically, the tumor was composed of wavy spindle cells, fibroblasts, and strands of collagen; the stroma showed scattered myxoid areas. The differential diagnoses included gastrointestinal stromal tumor, schwannoma, and neurofibroma. Immunohistochemistry for c-Kit, DOG (discovered on gastrointestinal stromal tumors)-1, smooth muscle actin, S-100 protein, and CD34 was performed. The tumor cells were diffusely positive for CD34 and S-100 protein, while they were completely negative for c-Kit, DOG-1, and smooth muscle actin. The final diagnosis was neurofibroma. Sporadic colonic neurofibroma is very rare. Given the diffuse positivity for CD34 and its rarity, colonic neurofibroma can be easily misdiagnosed as gastrointestinal stromal tumor. Recognition of this entity would be beneficial for pathologists to avoid misdiagnosis and unnecessary treatment.
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Van de Steen, Katrien, Robert Riedl, Sébastien Strypstein, and Evert-Jan Boerma. "Appendiceal neurofibroma and diverticula in a neurofibromatosis type 1 patient with chronic right lower quadrant pain." BMJ Case Reports 13, no. 6 (2020): e234383. http://dx.doi.org/10.1136/bcr-2020-234383.
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Neurofibromatosis type 1 (NF1, Von Recklinghausen disease) is an autosomal dominant disease with a birth incidence of 1/2500–3000. The most common presentations of NF1 are cutaneous presentations like café-au-lait spots and neurofibromas. 5%–25% of patients with NF1 have gastrointestinal manifestations of the disease. Appendiceal neurofibroma are extremely rare and only a few cases are described in literature. An appendectomy is indicated because of high risk of appendicitis and malignant transformation. We report the case of a 74-year-old male patient with a history of NF1 with chronic right lower quadrant pain. Successive imaging scans showed suspicion of chronic appendicitis. A diagnostic laparoscopy, resulting in a laparoscopic appendectomy was performed without complications. Histopathology showed appendiceal neurofibroma and diverticula. The postoperative course was uneventful. In patients with NF1 with right lower quadrant pain benign appendiceal neurofibroma should be included in the differential diagnosis. A diagnostic laparoscopy should be performed followed by an appendectomy.
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Bakker, Jennifer R., Marian M. Haber, and Fernando U. Garcia. "Gastrointestinal Neurofibromatosis: An Unusual Cause of Gastric Outlet Obstruction." American Surgeon 71, no. 2 (2005): 100–105. http://dx.doi.org/10.1177/000313480507100202.
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Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is a common autosomal dominant condition occurring in approximately 1/3000 births. NF-1 is known to be associated with gastrointestinal neoplasms in 2–25 per cent of patients. We report the first case of gastric outlet obstruction with perforation caused by neurofibroma in a patient with NF-1. The literature is reviewed, examining 61 previously reported cases of noncarcinoid gastrointestinal (GI) neoplasms in patients with NF-1 for symptoms, location, and types of neoplasms. Neoplasms were located most often in the small intestine (72%). Neurofibromas, found in 52 per cent of patients, were the most frequently diagnosed benign neoplasms followed by leiomyomas (13%), ganglioneurofibromas (9.8%), and gastrointestinal stomal tumor (GIST) (6.5%). Adenocarcinoma was present in 23 per cent of patients. Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity.
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Thoo, Foong Shi, and Zabidi Ahmad Muhamad. "Primary Small Bowel Neurofibroma Induced Intussusception Complicated with Small Bowel Obstruction and Perforation: A Case Report." Journal of Biomedical and Clinical Sciences 5, no. 2 (2020): 32–35. https://doi.org/10.5281/zenodo.4548107.
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Neurofibromatosis (NF) is a genetic neurological disorder which can lead to abnormal tumour suppression. Neurofibromatosis associated neurological tumour is usually benign in nature, only occasionally can become malignant. Gastrointestinal involvement is reported to be infrequent with only up to 25% of patients with neurofibromatosis showing involvement. Solitary gastrointestinal neurofibroma is very rare, with most cases involving the stomach or small bowel. We report here a case of solitary small intestinal neurofibroma with no other associated systemic signs, causing intussusception and intestinal obstruction.
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Nishikawa, Katsunori, Noburo Omura, Masami Yuda, et al. "Video-Assisted Thoracoscopic Surgery for Localized Neurofibroma of the Esophagus: Case Report and Review of the Literature." International Surgery 98, no. 4 (2013): 461–65. http://dx.doi.org/10.9738/intsurg-d-12-00021.1.
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Abstract Esophageal submucosal tumors are less common than other gastrointestinal tract tumors. Leiomyoma is the most common benign esophageal SMT, accounting for more than 70% of these tumors. We report on a case of a 56-year-old woman with a 3-cm diameter midthoracic esophageal submucosal tumor. Magnetic resonance imaging suggested leiomyoma or neurofibroma. Video-assisted thoracoscopic surgery was performed to enucleate the tumor from the esophageal wall by splitting the muscle layers. The postoperative course was uneventful, and the patient was discharged on postoperative day 8. Immunohistochemical staining confirmed the diagnosis of esophageal neurofibroma. Gastrointestinal tract involvement of neurofibromatous lesions is rare and occurs most frequently as a systemic manifestation of von Recklinghausen disease. Cases of localized esophageal neurofibroma with prior or subsequent evidence of generalized neurofibromatosis have rarely been documented. This is a rare case of isolated esophageal neurofibroma without classic systemic manifestations of generalized neurofibromatosis, and it is the first reported case treated by video-assisted thoracoscopic surgery.
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Soltanpoor, Pardis, Faranak Behnaz, Mehdi Farokhi, Reza Jalili Khoshnood, and Hamid Reza Azizi Farsani. "Anesthetic Considerations in a Patient With Plexiform Neurofibromatosis: A Case Report." International Clinical Neuroscience Journal 5, no. 4 (2018): 169–70. http://dx.doi.org/10.15171/icnj.2018.30.
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Plexiform neurofibromatosis is an uncommon variant of neurofibromatosis type 1 (NF1) (Von Recklinghausen’s disease). There is a greater prevalence of neurofibromatosis 1 in patients with other neoplasms, such as rhabdomyosarcomas, gastrointestinal stromal tumors (GISTs), pheochromocytomas, carcinoid tumors and ganglioneuromas. We report the anesthetic implications of a case of a 33 year old patient with plexiform neurofibromatosis and a history of pheochromocytoma which was operated on previously. He presented with painless swelling on upper eye-lead since childhood and had multiple caféau-lait spots and neurofibromas on the trunk. The surgery was done in two sessions first on the plexiform neurofibroma of the eye followed by the operation on the brain mass.
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Samartín Toimil, Cristina, Ana María Gay Fernández, Antoni Tardío Baiges, Juan Carlos Primo Álvarez, and Jose Enrique Casal Núñez. "Gastrointestinal bleeding caused by neurofibroma of the ileum." Gastroenterología y Hepatología (English Edition) 41, no. 4 (2018): 267–69. http://dx.doi.org/10.1016/j.gastre.2018.04.012.
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ABRAMSON, LISA P., BRUCE A. ORKIN, and ARNOLD M. SCHWARTZ. "Isolated Colonic Neurofibroma Manifested by Massive Lower Gastrointestinal Bleeding and Intussusception." Southern Medical Journal 90, no. 9 (1997): 952–54. http://dx.doi.org/10.1097/00007611-199709000-00020.
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Kwon, Bo Sang, Jeong Ok Shim, Jeong Kee Seo, et al. "Gastric neurofibroma in von Recklinghausen disease : a cause of upper gastrointestinal bleeding." Korean Journal of Pediatrics 49, no. 2 (2006): 203. http://dx.doi.org/10.3345/kjp.2006.49.2.203.
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Wang, D., and C. Stallwood. "A161 SYMPTOMATIC GASTRIC SCHWANNOMA DIAGNOSED WITH ENDOSCOPIC ULTRASOUND AND FINE NEEDLE BIOPSY: A CASE REPORT." Journal of the Canadian Association of Gastroenterology 6, Supplement_1 (2023): 9. http://dx.doi.org/10.1093/jcag/gwac036.161.
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Abstract Background Gastric schwannomas are exceedingly rare neoplasms that account for 0.2% of all gastric masses. They belong to a group of peripheral nerve sheath tumors, which are typically slow-growing, benign lesions that also include neurofibromas and perineuriomas. These neoplasms are often found incidentally on endoscopy as subepithelial lesions. Purpose We aim to outline the presentation and differential diagnosis of gastric peripheral nerve sheath tumors. Method We present the case of a 44 year old female with heartburn and dyspepsia who was referred for esophagogastroduodenoscopy, which incidentally found a subepithelial lesion on the greater curve of the stomach. She was then referred for EUS-guided fine needle biopsy of the mass, and the pathology was initially reported as a neurofibroma. Eventually, the lesion was surgically removed with the final pathology report stating that this was a gastric Schwannoma. Both specimens had immunostains positive for S-100 and negative for CD34, desmin, DOG1 and cKit. Result(s) While gastric schwannomas are typically benign, they can still cause abdominal pain, gastrointestinal bleeding, and even gastric outlet obstruction and intussusception. The differential diagnosis of gastric schwannoma includes other peripheral nerve sheath tumors, as well as malignant subepithelial lesions such as gastrointestinal stromal tumors or gastric lymphoma. Conclusion(s) Gastric schwannoma should always be considered when evaluating subepithelial gastric lesions, and EUS with histologic sampling should be pursued to diagnose and guide the management of these lesions. Please acknowledge all funding agencies by checking the applicable boxes below None Disclosure of Interest None Declared
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Chuang, XE, DYS Chan, ML Oon, S. Wang, and CLK Chia. "Inflammatory myofibroblastic tumour causing intestinal obstruction in a patient with neurofibromatosis type 1." Annals of The Royal College of Surgeons of England 103, no. 2 (2021): e53-e55. http://dx.doi.org/10.1308/rcsann.2020.7003.
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Inflammatory myofibroblastic tumours (IMTs) are rare tumours with unpredictable biological behaviour ranging from benign to locally invasive and rarely, distant metastasis. While neurofibromatosis type 1 (NF1) may manifest with gastrointestinal soft tissue tumours, this is the first report in the literature that describes an IMT occurring in a NF1 patient who presented with intestinal obstruction. Our patient presented with intestinal obstruction secondary to an obstructing terminal ileum mesenteric tumour. En bloc bowel resection was performed, with histology revealing an IMT and an adjacent neurofibroma. The resection margins were clear and the patient was free of recurrence at six months.
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Gopal, Sushmitha Malpe, Anuradha C. K. Rao, Ranjini Kudva, and Rajgopal Shenoy. "Intestinal ganglioneuromatosis with peri-intestinal neurofibroma limited to the gastrointestinal tract mimicking Crohn’s disease." Pathology 48 (February 2016): S141. http://dx.doi.org/10.1016/j.pathol.2015.12.381.
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Cox, Brian, Bonnie Balzer, Deepti Dhall, Maha Guindi, Alexandra Gangi, and Brent Larson. "First Reported Case of a Well-Differentiated Neuroendocrine Tumor (WDNET) Arising Within Diffuse Ganglioneuromatosis (DGN) in a Patient With Neurofibromatosis Type 1 (NF-1)." American Journal of Clinical Pathology 152, Supplement_1 (2019): S75. http://dx.doi.org/10.1093/ajcp/aqz113.093.
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Abstract Case Report A 51-year-old female with NF-1 underwent flexible sigmoidoscopy, which revealed a 1.8-cm mass in the upper rectum. The noncircumferential mass was located predominantly at the posterior rectal wall and was suspicious for a neurofibroma. The biopsy revealed a WDNET arising in a ganglioneuroma that extended to the edges of the biopsy tissue. The patient underwent a segmental resection, and sections revealed residual grade 1 WDNET intimately admixed with DGN. The area of DGN also showed multifocal microscopic clusters of neuroendocrine cells limited to the lamina propria. Discussion NF-1 involves the gastrointestinal tract in 10% to 25% of affected individuals. DGN is a poorly circumscribed, frequently transmural gastrointestinal lesion composed of spindled and ganglion cells that may be seen in PTEN hamartomatous tumor syndrome, multiple endocrine neoplasia syndrome type 2B, and (less commonly) NF-1. Though malignant transformation of neurofibromas to malignant peripheral nerve sheath tumors is well documented in NF-1, malignant transformation of DGN is extremely rare. To our knowledge, this is the first reported case of a WDNET arising in DGN. In addition to being the first reported case of WDNET in this setting, this is the first case to describe microscopic neuroendocrine cell nests in DGN. Similar proliferations have been described in the setting of inflammatory bowel disease, termed microcarcinoid or neuroendocrine cell micronests, which are not thought to have malignant potential. However, given the presence of these microscopic neuroendocrine cell nests within the larger DGN lesions and adjacent to the WDNET, we hypothesize that in the setting of NF-1, microscopic neuroendocrine cell clusters may serve as a precursor of WDNET. While this is a rare situation, these novel findings should prompt careful examination for WDNET and microscopic neuroendocrine cell nests in future cases of DGN.
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Sato, Aimee, Nathan Millard, Francisco Perez, Nicholas Vitanza, and Sarah Leary. "NFB-13. TRAMETINIB FOR PLEXIFORM NEUROFIBROMA AND RECURRENT LOW-GRADE GLIOMA." Neuro-Oncology 22, Supplement_3 (2020): iii420. http://dx.doi.org/10.1093/neuonc/noaa222.616.
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Abstract BACKGROUND Based on early clinical efficacy data, Seattle Children’s established a standard clinical practice for MEK inhibitor therapy for children with plexiform neurofibroma (PN) or recurrent low-grade glioma (LGG). METHODS Data were collected under an IRB-approved retrospective chart review. Trametinib was prescribed off-label at 0.025 mg/kg daily for up to two years. Physical exam and laboratory monitoring were monthly for 3 months, then every 3 months. Retinal examination, ECHO/ECG were every 3 months. Tumor response was evaluated by MRI every 3 months for LGG; imaging for PN was dependent on tumor location. RESULTS 30 patients received trametinib; 17 LGG, 16 PN (3 both); 22 with Neurofibromatosis, Type-1 (NF1); 16 female/15 male; median age 11 (range 4.1–22.6). Most common tumor location was optic pathway (n=11) and face/neck (n=10). Most common adverse events (AE) were dermatologic and gastrointestinal. Ten had dose interruption/reduction, only one discontinued therapy for AE. Six received dermatology specialty care for AE. With median follow-up of 12 months, only 3 patients had progression, one with NF1. One-year EFS was 100% for PN and 88%+7 for LGG. Driver mutations were identified in 9 of 10 tumors tested (5 BRAF fusion, 1 BRAFV600E, 1 FGFR1+NF1, 1 FGFR1+PTPN11, 1 NF1). Radiology review of response will be presented. CONCLUSIONS This real-world pediatric cohort supports efficacy and tolerability of MEK inhibitor therapy for short-term control of plexiform neurofibroma and low-grade glioma with and without NF1. Further studies are warranted to evaluate comparative efficacy, combination therapy and duration of therapy.
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Jeong, Gui-Ae. "Neurofibroma of the appendix and multiple gastrointestinal stromal tumors of small bowel in neurofibromatosis type 1 patient." Korean Journal of Clinical Oncology 10, no. 2 (2014): 116–21. http://dx.doi.org/10.14216/kjco.14021.
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Liu, Qiang, Lijun Tang, Xinhua Hu, et al. "Analysis of Extended Resection of Limb Soft Tissue Leiomyosarcoma." BioMed Research International 2021 (August 3, 2021): 1–4. http://dx.doi.org/10.1155/2021/2106972.
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Leiomyosarcoma is an uncommon soft tissue sarcoma that composed of malignant mesenchymal cells with distinct features of the smooth muscle lineage. Typically affects the uterus and gastrointestinal tract, it can rarely be seen in large blood vessels, lymphatic and glandular duts, the mesentery, the omentum, retroperitoneum, and limbs. Occurrence is particularly rare in the limb region. Retrospective study based on patient records and postoperative pathological histological features. Four patients with limb leiomyosarcoma that were operated between 2016 and 2020 were included, three of them arising in the subcutis of the thigh region and one in cubitus. Extend resection with satisfactory outcomes is reported. Pathological examination showed that masses were composed of a fascicular arrangement of hyperchromatic spindle-shaped cells, characterized by the proliferation of epithelioid cells with eosinophilic cytoplasm for epithelioid leiomyosarcoma. Leiomyosarcomas that arise in the soft tissue, although rare, should be differentiated from other lesions, such as neurilemoma, neurofibroma, liomyoma,lipomyoma, synoviosarcoma, rhabdomyosarcoma, malignant fibrous histiotoma, and malignant neurinoma.
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Mohammed, S., Q. Sadiq, N. Yadak, and F. Khan. "Synchronous Schwannoma and Gastrointestinal Stromal Tumor in Small Intestine – A Rare Case." American Journal of Clinical Pathology 156, Supplement_1 (2021): S68. http://dx.doi.org/10.1093/ajcp/aqab191.141.
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Abstract Introduction/Objective Small bowel Schwannoma is a benign neoplasm of nerve sheath cells. The Gastrointestinal stromal tumor (GIST) constitutes only about 1-2% of small bowel spindle cell tumors. The simultaneous presence of two tumors in the small bowel is extremely uncommon. Methods/Case Report We report a case of small bowel GIST co-existing with Schwannoma. A 64-year-old female with a known history of Neurofibromatosis was admitted for excision of a small bowel tumor. MRI of the abdomen revealed two enhancing lesions in the left upper quadrant adjacent to the small bowel. Differential considerations included GIST versus Neurofibroma. Left hemicolectomy with small bowel resection was performed. The proximal small bowel revealed GIST, spindle cell type, low risk (3.5 cm), low grade (<5 mitoses/ 5mm2). Tumor cells were diffusely reactive to CD34, CD117, and DOG1 immunostains and were nonreactive to S100 and SOX10 immunostains confirming the diagnosis of GIST. Another segment of the small bowel revealed a 1.5 cm well-circumscribed, predominantly spindle cell tumor with abundant myxoid stroma and prominent cyst formation. Tumor cells were diffusely reactive to S100 and SOX10 immunostains but nonreactive to CD34, CD117, and DOG1, favoring a diagnosis of Schwannoma. Gastrointestinal Schwannomas may be associated with Neurofibromatosis in some cases. GIST, a KIT- or PGDFRA-signaling driven mesenchymal tumor has also rarely been reported to be associated with Neurofibromatosis type 1. However, synchronous small bowel Schwannoma and GIST represent a rare co-existence of two different histopathologic subtypes of spindle cell tumors. Results (if a Case Study enter NA) NA Conclusion In summary, we present the rare co-existence of two different spindle cell lesions in Neurofibromatosis patient.
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Díaz-Flores, Lucio, Ricardo Gutiérrez, Mª Pino García, et al. "Telocytes in the Normal and Pathological Peripheral Nervous System." International Journal of Molecular Sciences 21, no. 12 (2020): 4320. http://dx.doi.org/10.3390/ijms21124320.
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We studied telocytes/CD34+ stromal cells in the normal and pathological peripheral nervous system (PNS), for which we reviewed the literature and contributed our observations under light and electron microscopy in this field. We consider the following aspects: (A) general characteristics of telocytes and the terminology used for these cells (e.g., endoneurial stromal cells) in PNS; (B) the presence, characteristics and arrangement of telocytes in the normal PNS, including (i) nerve epi-perineurium and endoneurium (e.g., telopodes extending into the endoneurial space); (ii) sensory nerve endings (e.g., Meissner and Pacinian corpuscles, and neuromuscular spindles); (iii) ganglia; and (iv) the intestinal autonomic nervous system; (C) the telocytes in the pathologic PNS, encompassing (i) hyperplastic neurogenic processes (neurogenic hyperplasia of the appendix and gallbladder), highly demonstrative of telocyte characteristics and relations, (ii) PNS tumours, such as neurofibroma, schwannoma, granular cell tumour and nerve sheath myxoma, and interstitial cell of Cajal-related gastrointestinal stromal tumour (GIST), (iii) tumour-invaded nerves and (iv) traumatic, metabolic, degenerative or genetic neuropathies, in which there are fewer studies on telocytes, e.g., neuroinflammation and nerves in undescended testicles (cryptorchidism), Klinefelter syndrome, crush injury, mucopolysaccharidosis II (Hunter’s syndrome) and Charcot–Marie–Tooth disease.
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Hashimoto, Hirotsugu, Hirotomo Koda, Hajime Horiuchi, et al. "Colonic Neurogenic Lesion: An Admixture of Mucosal Neurofibromatous Lesion and Submucosal Ganglioneuromatous Lesion With Transition." International Journal of Surgical Pathology 28, no. 5 (2020): 563–68. http://dx.doi.org/10.1177/1066896920904158.
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Benign neural tumors or tumor-like lesions are rarely detected in the gastrointestinal tract. In this article, we present the case of a neural lesion of the sigmoid colon, which was incidentally detected in a 68-year-old man treated with laparoscopic low anterior resection for an advanced carcinoma of the rectosigmoid junction. Within the resected specimen, a submucosal tumor-like protruding lesion was found in the sigmoid colon. Histologically, the growth was composed of mucosal neurofibromatous and submucosal ganglioneuromatous lesions, between which there was transition. Immunohistochemical analysis revealed a rupture of the perineurium in the area of transition, along with a proliferation of Schwann cells and supporting cells extending into the deep mucosa. This transition indicated that the mucosal and submucosal lesions comprised a single lesion, and that a diagnosis of neurofibroma or ganglioneuroma would be inadequate in this case. Because we could not classify it as an established single entity, we diagnosed the mass as an unclassifiable colonic neurogenic lesion. In summary, we report the case of an extremely rare occurrence of an unclassifiable colonic neurogenic lesion comprising an admixture of transitioning mucosal neurofibromatous and submucosal ganglioneuromatous lesions.
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Sharma, Jagannath D., Upasana Kalita, Muktanjalee Deka, Barasha Bharadwaj, and Adahra Patricia Beso. "Malignant peripheral nerve sheath tumor of retroperitoneum involving small and large bowel: A rare case report." Indian Journal of Case Reports 10, no. 2 (2024): 47–50. http://dx.doi.org/10.32677/ijcr.v10i2.4359.
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Malignant peripheral nerve sheath tumors (MPNSTs) are rare and aggressive, soft-tissue sarcomas having a high rate of recurrence which largely occur in the extremities and the head-and-neck region. Gastrointestinal (GI) MPNSTs are rare. To date, only a few cases have been reported. We report the case of a 50-year-old man who presented with pain and a lump in his abdomen for 1 year. Clinically, the case was thought to be retroperitoneal neurofibroma. A computed tomography scan revealed an intra-abdominal large well-defined lobulated mass predominantly on the left side. Exploratory laparotomy and resection of the tumor were done as large and small bowel mesentery masses. Histopathological examination showed a spindle cell neoplasm composed of interlacing fascicles of slender to plump spindle cells with wavy buckled nuclei. Cells showed moderate to marked anisonucleosis with hyperchromatic and vesicular nuclei with prominent nucleoli along with many pleomorphic cells with multiple nuclei and many mitosis. The tumor seemed to be infiltrating the wall of the small bowel and colon. On immunohistochemistry, tumor cells were positive for vimentin, focally positive for S100, and negative for smooth muscle actin. Thus, the diagnosis of MPNST was confirmed. This case highlights that, although rare, the possibility of MPNST of retroperitoneum should be considered as a differential diagnosis in an unexplored retroperitoneal mass.
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Liu, Ting, Carlynn Willmore-Payne, Lester J. Layfield, Robert E. Glasgow та Joseph A. Holden. "A gastrointestinal stromal tumor of the stomach morphologically resembling a neurofibroma: demonstration of a novel platelet-derived growth factor receptor α exon 18 mutation". Human Pathology 39, № 12 (2008): 1849–53. http://dx.doi.org/10.1016/j.humpath.2008.04.014.
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Siegel, Benjamin I., AeRang Kim, and Miriam A. Bornhorst. "DEI-04. RACE AND ETHNICITY DIFFERENCES IN TREATMENT-LIMITING TOXICITIES IN PATIENTS TREATED WITH MEK INHIBITORS." Neuro-Oncology 26, Supplement_4 (2024): 0. http://dx.doi.org/10.1093/neuonc/noae064.151.
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Abstract BACKGROUND MEK inhibitor (MEKi) therapies are used to treat pediatric low grade glioma (pLGG) and plexiform neurofibroma (PN). The toxicity profile reported in clinical trials have been favorable, but samples have been demographically homogeneous. In this study, we evaluate differences in treatment-limiting toxicities by race and ethnicity. METHODS This is a single-institution, retrospective study of patients treated with MEKi on the Sprint (NIH plexiform) trial or off-study for pLGG or PN from 2014 to 2023. Patient data was abstracted from clinical records. Treatment-limiting toxicity was defined as temporary hold, dose reduction, or discontinuation due to toxicity. RESULTS Fifty-eight evaluable patients received MEKi for PN (N=40) or pLGG (N=18), 5 of whom received multiple agents. Selumetinib was used in 44 cases, trametinib in 16, and binimetinib in 3. Median age was 11.0 years (IQR 7.7-14.5) and 37(64%) were male. Twenty-nine (50%) patients identified as White, 15(26%) Black, 6(10%) Asian, 4 (7%) Hispanic, and 4(7%) other/declined. Treatment-limiting toxicity occurred in 27(47%). Each demographic group had a similar rate of treatment-limiting toxicities; 52%(n=15) of White, 40%(n=6) of Black, 66%(n=4) of Asian patients, and 50%(n=2) of Hispanic patients. The most prevalent treatment-limiting toxicity was skin-related (N=10; 6 White, 1 Black, 2 Asian, 1 Hispanic) and included rash, paronychia, and impetigo. Other recurring toxicities were gastrointestinal (N=6, 5 White, 1 Black), edema (N=4, 1 White, 1 Black, 1 Asian, 1 Hispanic), cardiac (N=2, 1 White, 1 Black), and weight gain/loss (N=4, 2 White, 2 Asian). CONCLUSIONS Frequencies of treatment-limiting toxicities were similar across race and ethnicity. Dermatologic and gastrointestinal toxicity were more commonly seen in White patients relative to other adverse events. Findings should be interpreted with caution due to sample size, but support future efforts to understand demographic differences in MEKi toxicity.
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Tessele, Bianca, and Claudio S. L. Barros. "Tumores em bovinos encontrados em abatedouros frigoríficos." Pesquisa Veterinária Brasileira 36, no. 3 (2016): 145–60. http://dx.doi.org/10.1590/s0100-736x2016000300002.
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Resumo: Numa pesquisa em abatedouros a procura de lesões em bovinos, realizada de janeiro de 2011 a julho de 2014, 544 foram encontradas, das quais 65 eram neoplasmas. Quarenta e dois porcento desses tumores eram de origem mesenquimal; 37% eram epiteliais; 14,5% eram derivados da crista neural; 5% eram tumores do cordão sexual; e 1,5 eram tumores originários do sistema nervoso periférico. O tumor mais frequentemente encontrado foi o linfoma (28% de todos os tumores), a maioria dos casos como parte do complexo leucose bovina enzoótica. O carcinoma de células escamosas foi o segundo tumor mais frequente (15% de todos os tumores). É chamada a atenção para a frequência desses tumores e para a sua importância no diagnóstico diferencial no abatedouro frigorífico entre eles e outras lesões importantes, incluindo as lesões granulomatosas da tuberculose. Houve uma ocorrência significativa do feocromocitoma adrenal (13% de todos os tumores). Papilomatose representou apenas 3% de todos os tumores. Como papilomas são comuns em bovinos, seu baixo número nesse estudo pode ser explicado pelo fato de que eles não são usualmente diagnosticados no exame post mortem (quando o couro já foi retirado da carcaça), mas sim no exame ante mortem, como ocorreu na maioria dos casos deste estudo. Tumores encontrados com menor frequência (cada um perfazendo entre 1.5 e 3% de todos os tumores) incluíram adenocarcinoma apócrino misto da cauda, adenocarcinoma mamário, adenocarcinoma uterino, carcinoma de células renais, fibroma interdigital, hemangiossarcoma, leiomioma uterino, lipoma, lipossarcoma, mesotelioma, neurofibroma, tumor de células da granulosa, tumor estromal gastrointestinal, tumores hepáticos, tumores melanocíticos, e tumores pulmonares primários. Pretende-se que os resultados dessa pesquisa possam ajudar na identificação das lesões na inspeção oficial em matadouros frigoríficos.
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Niu, C., and Q. Ma. "Primary Malignant Peripheral Nerve Sheath Tumor in the Liver with Glandular Differentiation." American Journal of Clinical Pathology 162, Supplement_1 (2024): S108—S109. http://dx.doi.org/10.1093/ajcp/aqae129.241.
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Abstract Introduction/Objective Malignant peripheral nerve sheath tumors (MPNST) most commonly affect the proximal extremities and paraspinal region. Primary hepatic MPNST is extremely rare. Here we report a primary hepatic MPNST with heterologous glandular differentiation in a patient with Neurofibromatosis type 1 (NF1). Methods/Case Report Review of the clinical features and histopathological findings of the resected specimen. A review of all the published cases of primary liver MPNST. Results (if a Case Study enter NA) A 69-year-old male patient with a history of NF1, Gastrointestinal Stromal Tumor and treated hepatitis C without pre-existed neurofibroma presented with jaundice. Imaging revealed an ill-defied hypodense mass in the left hepatic lobe. A segmentectomy of the liver revealed an infiltrating 10 cm heterogenous yellow-white-pink slightly firm tumor with 5% necrosis. The tumor showed biphasic histology composed of predominantly spindle cells and clusters of glandular components. The spindle cells showed fascicular growth pattern with vaguely marbled appearance. Focal osteoclast-like multinucleated cells were seen. The glands were well defined, mostly appeared to be low grade, and lined by cuboidal to columnar cells, with a bile-duct and intestinal-like appearance. However, focal malignant glands with hepatic differentiation were also noted. Immunohistochemistry showed patchy loss of H3K27me3 in the spindle cells. The glandular cells were positive for AE1/AE3, CK7 and CK20. The tumor cells showed rare reactivity to TLE1 and were negative for S-100, SOX10, CD34, CD117 and DOG1. These findings supported the diagnosis of MPNST with glandular differentiation. 13 cases of primary MPNST of liver have been reported, and only one case described epithelioid differentiation. Conclusion The differential diagnoses of a primary hepatic biphasic tumor include sarcomatoid carcinoma, carcinosarcoma, biphasic synovial sarcoma and MPNST. Our case illustrates a rare biphasic hepatic MPNST. The morphology and loss of H3K27me3 expression by immunohistochemistry in a patient with NF1 support this challenging diagnosis.
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Gómez-Zuleta, Martín Alonso, and Adán José Lúquez-Mindiola. "Neurofibromatosis tipo 1 y sangrado de intestino delgado. Reporte de caso." Revista de la Facultad de Medicina 65, no. 4 (2017): 683–85. http://dx.doi.org/10.15446/revfacmed.v65n4.59619.
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La neurofibromatosis tipo 1, o enfermedad de von Recklinghausen, es un desorden neurocutáneo hereditario con compromiso gastrointestinal en el 5-25% de los pacientes, siendo sintomático solo el 5%; se presenta posterior a las manifestaciones cutáneas y afecta en su mayoría el yeyuno. Los síntomas de esta enfermedad son dolor abdominal, obstrucción intestinal, perforación, diarrea, masa palpable y sangrado gastrointestinal alto o bajo.A continuación se reporta el caso de una mujer con sangrado gastrointestinal manifiesto secundario a neurofibromas plexiformes en yeyuno y se realiza una breve revisión de la literatura sobre compromiso gastrointestinal.
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Puentes Manosalva, Fabian Eduardo, Rubén Darío Londoño López, Andrés Sánchez Gil, and Lazaro Antonio Arango Molano. "Lesiones intestinales atípicas en una paciente con neurofibromatosis tipo 1: reporte de caso." Revista colombiana de Gastroenterología 39, no. 4 (2024): 459–64. https://doi.org/10.22516/25007440.1114.
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La neurofibromatosis tipo 1 (NF1) es un trastorno neurocutáneo que puede manifestarse en forma de múltiples tumores o lesiones plexiformes en el tracto gastrointestinal y a nivel extraintestinal. El compromiso gastrointestinal representa el 10%-25% de todos los pacientes. Los neurofibromas son el tipo más común de lesiones que se localizan principalmente en el intestino delgado. Cuando se presentan múltiples tumores en el intestino delgado, comúnmente son tumores del estroma gastrointestinal (GIST). Se presenta el caso clínico de una mujer de 55 años de edad con antecedente de NF1, con neurofibromas y manchas ¨café con leche¨ en todo su cuerpo. Fue atendida de forma ambulatoria en la unidad de endoscopia de Unión de Cirujanos S. A. S. en Manizales, Colombia, en el Servicio de Gastroenterología Clínico Quirúrgica de la Universidad de Caldas, donde se le realizó una ileocolonoscopia, la cual fue indicada por tamizaje positivo de sangre oculta en heces. La paciente negó la presencia de dolor abdominal, hematoquecia, rectorragia o melenas. La ileocolonoscopia evidenció lesiones de aspecto nodular entre 3 y 5 mm en el íleon distal, se realizó una resección endoscópica de una de ellas y se envió a estudio histopatológico.
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Liang, Raymond Fueng-Hin, Cora Yuk-Ping Chau, and Wee Chian Lim. "Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour." Case Reports in Gastroenterology 18, no. 1 (2024): 299–305. http://dx.doi.org/10.1159/000538688.
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Introduction: Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel. Case Presentation: We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1. Conclusion: Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.
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Gandhi, Vidhyachandra, Pratik Gautam, Taher Chharchhodawala, and Nitin Pai. "Recurrent gastrointestinal bleeding in a patient with type 1 neurofibromatosis." BMJ Case Reports 12, no. 6 (2019): e226303. http://dx.doi.org/10.1136/bcr-2018-226303.
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Type 1 neurofibromatosis (NF1) is a hereditary disorder with an incidence of approximately 1:3000 at birth. Gastrointestinal (GI) lesions occur in approximately one-third of the patients, with most being asymptomatic and diagnosed incidentally. Symptomatic lesions leading to GI bleeding are uncommon. We share our experience of an elderly man with NF1, who presented with massive recurrent GI bleeding secondary to jejunal neurofibromas. The lesions were identified on CT scan of abdomen, and the patient was managed with resection of the involved bowel segment.
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Castrejón Ibarra, Andrea, Claudia Nieto Uribe, and Jonathan Ortiz Parente. "NEUROFIBROMATOSIS INTESTINAL COMO CAUSA DE SANGRADO DE TUBO DIGESTIVO. EXPERIENCIA EN LA CLÍNICA HOSPITAL ISSSTE CELAYA REPORTE DE CASO." Ciencia Latina Revista Científica Multidisciplinar 9, no. 1 (2025): 8495–501. https://doi.org/10.37811/cl_rcm.v9i1.16488.
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La aparición de tumores del estroma gastrointestinal (GIST) en el intestino delgado es rara, es poco frecuente y, hasta la fecha, rara vez se ha descrito. Histológicamente la presentación de estos puede ser variada y depende sobre todo del tipo de células de donde se originan. Dentro de este grupo de tumores encontramos la neurofibromatosis la cual provoca el desarrollo de tumores que se originan a partir del tejido nervioso. La neurofibromatosis tipo 1 (NF-1) o enfermedad de Von Recklinghausen, ocasiona tumores benignos y malignos en el tejido nervioso. Presentándose 1 caso por cada 3000 - 4000 personas a nivel mundial. El compromiso gastrointestinal se observa en 5-25% de los pacientes, presentándose por lo general de forma tardía en la enfermedad y posterior a las manifestaciones cutáneas. Solo 5% presenta síntomas como dolor abdominal, diarrea, masa palpable, sangrado, obstrucción o perforación intestinal. A continuación se reporta el caso de una mujer con antecedente de NF-1 sangrado gastrointestinal manifiesto secundario a neurofibromas en tracto gastrointestinal y se realiza una revisión de la literatura actual sobre compromiso gastrointestinal.
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Heuschkel, Robert, Sarah Kim, Bruce Korf, Gretchen Schneider, and Athos Bousvaros. "Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1." Journal of Pediatric Gastroenterology and Nutrition 33, no. 2 (2001): 149–54. http://dx.doi.org/10.1002/j.1536-4801.2001.tb07427.x.
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ABSTRACTBackgroundSymptomatic involvement of the gastrointestinal tract in children with neurofibromatosis type 1 (NF1) is rare. Most reported complications in adults are caused by the presence of neurofibromas in the stomach, small bowel, or mesentery. In contrast, abdominal pain in children with NF1 may be the result of nonanatomic causes, such as migraine. There are no previous reports of an association between abdominal migraine and NF1.MethodsChildren with abdominal migraine were identified from a group of children with NF1, all of whom had been followed up for a minimum of 3 years. Medical records of cases were reviewed independently by two authors. MEDLINE was searched via PubMed for all reports of children with NF1 and any associated gastrointestinal involvement.ResultsSix children with NF1 and intermittent, episodic, severe abdominal pain are reported. Investigations for obstructive or inflammatory causes of abdominal pain were negative. All patients had previously been diagnosed with migraine headaches by a neurologist. In five of the six patients, propranolol (10–15 mg three times daily) resulted in relief of their abdominal pain within days of starting therapy. Our review identified 24 children in the medical literature with gastrointestinal complications of NF1, mostly secondary to visceral neurofibromas. In almost all of these cases, clinical examination and simple radiologic investigations led to the definitive diagnosis. There were no reports of abdominal migraine complicating NF1.ConclusionsAbdominal pain secondary to migraine is an unrecognized cause of abdominal pain in children with NF1 and may be more common than anatomic causes of abdominal pain in children with NF1. In children with NF1 and severe recurrent abdominal pain in whom an evaluation for anatomic lesions is negative, a trial of migraine therapy may be indicated.
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Sang, Nguyen Van, Tran Phan Ninh, Dang Trung Thanh, and Nguyen Cuong Thinh. "A case report of mesenteric involvement in neurofibromatosis type 1." Journal of Clinical Imaging Science 12 (July 29, 2022): 43. http://dx.doi.org/10.25259/jcis_49_2022.
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Mutations in the Neurofibromatosis Type 1 (NF-1) gene, which is located on chromosome 17q11.2, are the cause of NF-1, an autosomal dominant hereditary condition in which tumors of the nerve system develop. Neurological, skeletal, and cutaneous abnormalities are symptoms of the condition. Of all gastrointestinal tract lesions, mesentery lesions are the least common. There are many gastrointestinal problems that can accompany mesenteric neurofibromas, or they may not. We describe a case of a 5-year-old kid with mesenteric neurofibromatosis, which results in bowel obstruction and abdominal discomfort. On a CT scan, the mesenteric vasculature was completely encircled by homogenous soft tissue lesions without any vessel wall invasion. Diffuse mesentery lesions were discovered during surgery, although they could not be fully removed.
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Surkov, N. A., O. M. Dondup, F. S. Piloyan, D. M. Redkina, and A. A. Zaripova. "Clinical case of median arcuate ligament syndrome in the practice of a pediatric surgeon." Pacific Medical Journal, no. 1 (May 19, 2024): 79–81. http://dx.doi.org/10.34215/1609-1175-2024-1-79-81.
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Recurrent abdominal pain in childhood and adolescence may be indicative of chronic mesenteric ischemia with median arcuate ligament syndrome as a result of compression of the celiac artery by the median arcuate ligament of the diaphragm and its internal crura, neurofibrous tissue of the celiac plexus. The presence of symptoms characteristic of various diseases of gastrointestinal tract organs, absence of pathognomonic signs and complex approach in diagnostics of abdominal cavity vascular system, insufficient awareness of specialists of children’s outpatient clinics determine the urgency of timely diagnostics and treatment of patients with this pathology. Median arcuate ligament syndrome, or Dunbar syndrome, is more often a congenital malformation. This syndrome can be considered as an acquired pathology in the case of compression of the celiac artery by enlarged lymph nodes and neurofibrous tissue of the celiac plexus. In addition to hemodynamically significant disorders of blood supply to the gastrointestinal tract, Dunbar syndrome in children and adolescents is also accompanied by psycho-emotional disorders due to the presence of unstable stools, recurrent abdominal pain, and often repeated ineffective requests for medical care. Clinical observation, methods of diagnosis and surgical treatment of median arcuate ligament syndrome in a 14-year-old patient are presented in the study.
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Lin, Lu, Jian Chen, James A. Richardson, and Luis F. Parada. "Mice lacking neurofibromin develop gastric hyperplasia." American Journal of Physiology-Gastrointestinal and Liver Physiology 297, no. 4 (2009): G751—G761. http://dx.doi.org/10.1152/ajpgi.00007.2009.
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Gastrointestinal (GI) neoplasms are among many manifestations of the genetic disease neurofibromatosis type 1 (NF1). However, the physiological and pathological functions of the Nf1 gene in the GI system have not been fully studied, possibly because of a lack of mouse models. In this study, we generated conditional knockout mice with Nf1 deficiency in the GI tract. These mice develop gastric epithelial hyperplasia and inflammation together with increased cell proliferation and apoptosis. The gastric phenotypes observed in these mutant mice seem to be the consequence of loss of Nf1 in gastric fibroblasts, resulting in paracrine hyperactivation of the ERK pathway in the gastric epithelium. These mice provide a useful model to study the pathogenesis of GI lesions in a subset of patients with NF1 and to investigate the role of the Nf1 gene in the development of GI neoplasms.
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Salem, Mohamed Lemine Ahmed, Jalila Ters, Hicham El bouhadouti, et al. "Neurofibromatosis Type 1 and Pheochromocytoma: Case Report." SAS Journal of Surgery 7, no. 11 (2021): 699–701. http://dx.doi.org/10.36347/sasjs.2021.v07i11.013.
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Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurofibromin 1 (NF1) gene mutation, which predisposes for various benign and malignant tumors. Some of these tumors that frequently observed in NF1 are pilocytic astrocytomas, gastrointestinal stromal tumors, pheochromocytomas and juvenile myelomonocytic leukemia. Pheochromocytomas account for 4% of incidentally discovered adrenal tumors and 0.1 to 0.2% of hypertensive patients. Neurofibromatosis type 1 is a rare cause of pheochromocytoma. We discuss through this case and a review of the literature.
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Schmale, M. "Degranulation of eosinophilic granule cells in neurofibromas and gastrointestinal tract in the bicolor damselfish." Fish & Shellfish Immunology 17, no. 1 (2004): 53–63. http://dx.doi.org/10.1016/j.fsi.2003.12.002.
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Tchernev, Georgi, Anastasiya Atanasova Chokoeva, Uwe Wollina, Torello Lotti, Georgi Konstantinov Maximov, and Ilia Lozev. "Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature." Open Access Macedonian Journal of Medical Sciences 6, no. 1 (2018): 71–73. http://dx.doi.org/10.3889/oamjms.2018.004.
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BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders. The incidence of gastrointestinal manifestations of NF 1 is relatively low, compared to neurological disorders, presenting approximately in 5 to 25% of the patient, but later in life.CASE REPORT: We present a patient with NF1, ventricular polyposis and attentional disorders with cognitive phenotype, while both of her daughters also present with cutaneous manifestations of NF1.CONCLUSION: To the best of our knowledge, this is the first reported case of NF1 with ventricular polyposis as a gastrointestinal manifestation in the mother and NF1 with no signs of inner organ involvement in both of her daughters.
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Anderson, S. A., and V. Dal Zotto. "Tactile Corpuscle-like Bodies in Rectal Mucosa - A Mysterious Misleading Lesion." American Journal of Clinical Pathology 154, Supplement_1 (2020): S84. http://dx.doi.org/10.1093/ajcp/aqaa161.185.
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Abstract Introduction/Objective Tactile corpuscle-like bodies (TCLB) are specialized mechanoreceptors derived from Schwannian structures, resembling Wagner-Meissner corpuscles which are often found in the skin and within schwannomas, neurofibromas, and melanocytic nevi. However, their presence in gastrointestinal mucosa is a rare phenomenon. To our knowledge, only 27 cases have been reported in the English literature. Methods We present two cases showing this rare entity in rectal mucosa. The first case is in a 34-year-old female was a past medical history significant for Ehlers-Danlos syndrome. The second case was submitted in consultation, of a 64-year-old male. In both cases, rectal polyps were identified on endoscopy. Results Histologically, clusters of unencapsulated, lamellated spindle cells in the lamina propria were identified. Immunoperoxidase stains using antibodies against CD68 and S100 protein were performed on both specimens. Additionally, on the first case synaptophysin was also performed. The laminated clusters were strongly positive for S100 and negative for CD68. The first case showed focally positive synatophysin. Although the etiology of TCLBs is still unclear, they are considered to be benign, incidental neural proliferations. The histological differential diagnosis includes: schwann cell hamartomas, neurofibromas, ganglioneuromas, mucosal neuromas, nodular amyloid deposition, or granulomas. However, those in question can be differentiated with the use of S100 protein and histiocytic markers. Conclusion Awareness of TCLBs is important. Although they are benign neural proliferations, it is important to differentiate from histologic mimics often associated with inherited syndromes.
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Bagorane, Justin, Gustave Negamiyimana, Germaine Niyitanga, Adam Hajjine, Mohamed El Fadli, and Rhizlane Belbaraka. "Endometrial cancer in neurofibromatosis type I (von Recklinghausen’s disease): A case report and literature review." Our Dermatology Online 13, no. 2 (2022): 179–82. http://dx.doi.org/10.7241/ourd.20222.15.
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Neurofibromatosis type I is a complex, multisystem cancer predisposition syndrome of a number of tumors, which commonly arise in the central and peripheral nervous system, the gastrointestinal tract (GIT), and breast and soft tissues, yet the association with endometrial cancer is rare. Herein, we report the case of a 67-year-old female, never married, who had been followed since puberty for neurofibromatosis type I clinically manifested by pigmentary abnormalities such as café-au-lait macules, neurofibromas, and Lisch nodules with various comorbidities, such as diabetes type I, hypertension, renal failure, and ophthalmic disorders (poor vision). One year earlier, she developed a locally advanced endometrial cancer, for which chemotherapy would not have been optimal because of these comorbidities; due to the pathology of neurofibromatosis, the lifespan of such individuals is typically around fifteen years shorter than that of the general population and it negatively impacts their quality of life.
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Nakayama, Taisuke, Mayuko Nakayama, Takashi Harada, Shingo Isshiki, Hideki Sasaki, and Hiroshi Ishitoya. "Was the internal thoracic arterial graft selection for coronary artery bypass grafting appropriate in a patient with neurofibromatosis-1?" SAGE Open Medical Case Reports 7 (January 2019): 2050313X1881872. http://dx.doi.org/10.1177/2050313x18818724.
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Neurofibromatosis type 1, also called von Recklinghausen’s disease, is a hereditary congenital disorder that affects tissues of neuroectodermal or mesodermal origin. This disease has various manifestations, including pigmented skin lesions, cutaneous neurofibromas, skeletal abnormalities, and tumors of the central/peripheral nervous and gastrointestinal systems, and vascular abnormalities. Because of vasculopathy, part of the vessel wall may be replaced by neurofibromatosis tissue. Involvement of the internal thoracic artery is, however, extremely rare. Off-pump coronary artery bypass grafting using the left internal thoracic artery was performed for coronary arterial disease in a patient with neurofibromatosis, and the residual left internal thoracic artery vessel pathology was investigated. The left internal thoracic artery vessel showed intimal proliferation, medial thinning, and fragmentation of elastic tissue. However, these findings were not typical for von Recklinghausen’s neurofibromatosis. Internal thoracic artery graft selection was feasible for coronary artery bypass grafting in a patient with neurofibromatosis type 1.
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Hirata, Keiji, Kohtaro Kitahara, Yasuhiro Momosaka, et al. "Diffuse ganglioneuromatosis with plexiform neurofibromas limited to the gastrointestinal tract involving a large segment of small intestine." Journal of Gastroenterology 31, no. 2 (1996): 263–67. http://dx.doi.org/10.1007/bf02389528.
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Yan, Lei, Shenon Sethi, Pincas Bitterman, Vijaya Reddy, and Paolo Gattuso. "Umbilical Lesions: Clinicopathologic Features of 99 Tumors." International Journal of Surgical Pathology 26, no. 5 (2018): 417–22. http://dx.doi.org/10.1177/1066896918758916.
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Background. Umbilical lesions are rare, and can be benign or malignant. This retrospective study was conducted to assess the epidemiological, clinical, and histologic characteristics of umbilical masses. Methods. Cases of umbilical masses from January 1994 to August 2016 were retrieved from our institution’s pathology databases, and their clinicopathological features were reviewed. Results. There were a total of 99 cases of umbilical masses, 78 women (78.8%) and 21 men (21.2%). Of these, 59 were malignant (59.6%) and 40 were benign (40.4%). Among the malignant cases, 48 were women with a mean age of 65 years and 11 were men with a mean age of 66 years. All malignant lesions were secondary tumors. Twenty-five patients (42.3%) had a metastatic tumor to the umbilicus with an average of 7 months from the original diagnosis (12 gynecological, 8 pancreatic/gastrointestinal, 2 lymphomas, and a case each of breast, prostate, and melanoma). Of the patients with a benign diagnosis, 30 were women (75%) with a mean age of 52 years and 10 were men (25%) with a mean age of 43 years. The benign lesions included epidermal inclusion cysts (15/40), endometriosis (11/40), lipomas (3/40), neurofibromas (3/40), fibromas (3/40), abscesses (2/40), and 1 case each of tubular apocrine adenoma, serous cystadenoma, and calcified nodule. Conclusion. The most common metastatic tumors to the umbilicus are from the adjacent organs with the gynecologic tract as the most frequent primary followed by the gastrointestinal system. Primary malignant tumors of the umbilical region are rarely identified in clinical practice.
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Vaassen, Pia, Nikola Reinhard Dürr, and Thorsten Rosenbaum. "Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option." Neuropediatrics 53, no. 01 (2021): 052–60. http://dx.doi.org/10.1055/s-0041-1740549.
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AbstractNeurofibromatosis type-1 (NF1)-associated plexiform neurofibromas (PN) are peripheral nerve sheath tumors that can significantly affect the quality of life. Until recently, surgery was the only treatment for these tumors. However, in most cases, surgery cannot achieve complete tumor removal and carries a high risk of postoperative deficits. Therefore, the recent approval of the MEK inhibitor selumetinib for the treatment of NF1-associated PN provides a long-awaited novel therapeutic option. Here, we report our experience with MEK inhibitor treatment in 12 pediatric NF1 patients with inoperable symptomatic PN. Eight patients received trametinib (median therapy duration 12.13 months and range 4–29 months), and four patients received selumetinib (median therapy duration 6.25 months and range 4–11 months). Volumetric magnetic resonance imaging (MRI) after 6 months of treatment was available for seven trametinib patients (median tumor volume reduction of 26.5% and range 11.3–55.7%) and two selumetinib patients (21.3% tumor volume reduction in one patient and +3% tumor volume change in the other one). All patients reported clinical benefits such as improved range of motion or reduced disfigurement. Therapy-related adverse events occurred in 58.3% of patients and mainly consisted of skin toxicity, paronychia, and gastrointestinal symptoms. Two patients discontinued trametinib treatment after 14 and 29 months when severe skin toxicity occurred and no further reduction of tumor size was observed. In one patient, discontinuation of therapy resulted in a 27.2% tumor volume increase as demonstrated on volumetric MRI 6 months later. Our data show that MEK inhibition is a novel therapeutic approach for inoperable PN with promising results and a manageable safety profile.
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Perrone, Lorena, Simone Sampaolo, and Mariarosa Anna Beatrice Melone. "Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds." Cancers 12, no. 2 (2020): 454. http://dx.doi.org/10.3390/cancers12020454.
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Efficacious therapies are not available for the cure of both gliomas and glioneuronal tumors, which represent the most numerous and heterogeneous primary cancers of the central nervous system (CNS), and for neoplasms of the peripheral nervous system (PNS), which can be divided into benign tumors, mainly represented by schwannomas and neurofibromas, and malignant tumors of the peripheral nerve sheath (MPNST). Increased cellular oxidative stress and other metabolic aspects have been reported as potential etiologies in the nervous system tumors. Thus polyphenols have been tested as effective natural compounds likely useful for the prevention and therapy of this group of neoplasms, because of their antioxidant and anti-inflammatory activity. However, polyphenols show poor intestinal absorption due to individual intestinal microbiota content, poor bioavailability, and difficulty in passing the blood–brain barrier (BBB). Recently, polymeric nanoparticle-based polyphenol delivery improved their gastrointestinal absorption, their bioavailability, and entry into defined target organs. Herein, we summarize recent findings about the primary polyphenols employed for nervous system tumor prevention and treatment. We describe the limitations of their application in clinical practice and the new strategies aimed at enhancing their bioavailability and targeted delivery.
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Dare, Anna J., Abha A. Gupta, Seng Thipphavong, Markku Miettinen, and Rebecca A. Gladdy. "Abdominal neoplastic manifestations of neurofibromatosis type 1." Neuro-Oncology Advances 2, Supplement_1 (2020): i124—i133. http://dx.doi.org/10.1093/noajnl/vdaa032.
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Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor syndrome, with a wide clinicopathologic spectrum. It is defined by characteristic central nervous system, cutaneous and osseous manifestations, and by mutations in the NF1 gene, which is involved in proliferation via p21, RAS, and MAP kinase pathways. Up to 25% of NF1 patients develop intra-abdominal neoplastic manifestations including neurogenic (commonly plexiform neurofibromas and malignant peripheral nerve sheath tumors), interstitial cells of Cajal (hyperplasia, gastrointestinal stromal tumors), neuroendocrine, and embryonal tumors (rhabdomyosarcoma). Nonspecific symptoms, multifocal disease, or coexistence of 2 or more tumor types make patients challenging to diagnose and manage. Screening for intra-abdominal tumors in NF1 patients remains controversial, and currently no guidelines are established. Management decisions are complex and often informed by single-center experiences or case studies in the literature, though the field is rapidly evolving. Thus, NF1 patients should be followed in specialist centers familiar with their wide spectrum of pathology and with multidisciplinary care including specialized pathology and radiology. This review will (1) provide a contemporaneous synthesis of the literature and our multi-institutional clinical experiences with intra-abdominal neoplasms in NF1 patients, (2) present a classification framework for this heterogeneous group of disorders, and (3) outline approaches to screening, surveillance, diagnosis, and management.
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Dantas, Raiana Carol de Medeiros, Lucca Ferdinando Queiroz Fernandes, Iago Tavares de Carvalho, et al. "Coexistência de tumores estromais gastrointestinais (GISTs), feocromocitoma e paragangliomas em uma paciente com Neurofibromatose tipo 1: Relato de Caso." Research, Society and Development 11, no. 3 (2022): e3911326166. http://dx.doi.org/10.33448/rsd-v11i3.26166.
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A neurofibromatose tipo 1 (NF1), consiste em uma doença genética. Quando comparada às outras duas formas, neurofibromatose tipo 2 (NF2) e schwannomatose, a NF1 é a apresentação mais comum. O quadro clínico geralmente se apresenta como máculas, sardas axilares e/ou inguinais, nódulos de Lisch (hamartomas de íris) e neurofibromas. O presente estudo trata-se de um relato de caso, o qual tem como objetivo relatar as repercussões e achados raros em uma idosa diagnosticada com NF1. A clínica da paciente começou há cerca de 45 anos quando buscou um serviço de saúde devido crises recorrentes de diarréia e hérnia em região inguinal. Foi solicitada uma USG de abdome total que evidenciou uma massa em região retropancreática característica de paraganglioma. Após 4 anos, a paciente possuía hipertensão primária de difícil controle com picos paroxísticos, sendo em seguida diagnosticado um feocromocitoma por meio de exames de imagem e exames laboratoriais. Durante o acompanhamento de rotina, uma ressonância magnética (RM) de abdome e pelve identificou nódulo sólido mantendo íntima relação com alças intestinais de delgado, que na imunohistoquímica tratava-se de um Tumor do Estroma Gastrointestinal (GIST). A paciente segue com acompanhamento oncológico na sua cidade e encontra-se sem queixas. Ultimamente tem apresentado lapsos de memória intermitentes e alguns episódios de quedas. Dessa forma, após uma revisão da literatura, descobriu-se que o tema em questão raramente é discutido, verificando-se escassos registros da existência simultânea dos três tumores citados, o que reforça, portanto, a importância deste estudo.
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Bulusu, Venkata Ramesh, Ruth Casey, Olivier Giger, Nicholas Carroll, and Eamonn Maher. "Neurofibromatosis 1 (NF1) and gastrointestinal stromal tumors (GISTs): Five-year experience from a regional center in United Kingdom." Journal of Clinical Oncology 37, no. 15_suppl (2019): 11035. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.11035.
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11035 Background: NF1 is an inherited autosomal dominant condition characterised by multifocal neurofibromas, café au lait spots, Lisch nodules, freckling. GISTs are the most common mesenchymal tumour of the gastrointestinal tract occurring in NF1 patients. We present our 5 year experience of NF1 associated GISTs from a regional centre in United Kingdom. Methods: 15 patients with GISTs associated with NF1 syndrome were identified from the database. Clinical, pathological, molecular and treatment outcomes were analysed. Results: N = 15. Male-3 and female-12. Median age 46 years. 33% were multifocal and 67% unifocal. Primary site Stomach-6.6%, duodenum-33%, small bowel-67%, colon 6.6%. Presenting symptoms: Abdominal pain-47%, anemia/bleed-40% and incidental finding-13%. Tumour size 0.5-23 cm, median 9 cm. Mitotic index 0-15, median 4 mitoses/5mm2. Risk stratification-Low/intermediate risk 60% and high risk 40%. Histology was spindle cell in 87% and mixed in 13%. All GISTs were CD117 and DOG-1 +ve. SDHB expression was preserved in all GISTs. No activation mutations were detected in KIT (exons 9, 11, 13, 17), PDGFRA (exons 12, 14, 18) and BRAF. Treatment: 67% had the primary GIST resected. None had adjuvant imatinib. 6 patients had been treated with tyrosine kinase inhibitors. 1 partial response lasting < 3 months was observed with Imatinib. No durable responses were seen with Imatinib or Sunitinib or Regorafenib. All 5 patients with metastatic disease died within one year of diagnosis. Conclusions: GISTs associated with NF1 syndrome are rare. Median age of diagnosis is a decade earlier than KIT/PDGFRA mutated GISTs. We observed that NF1 associated GISTs occur predominantly in small bowel, are mostly spindle cell histology and have female preponderance. No durable responses were noted with Imatinib or Sunitinib or Regorafenib. There is an urgent need for systematic international collaboration to identify druggable pathways/targets in NF1 GISTs. Any trials should be multicentre/ multinational to expedite recruitment.
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van den Broek, Medard F. M., Ester B. G. Rijks, Peter G. J. Nikkels, et al. "Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series." Endocrine 72, no. 3 (2021): 905–14. http://dx.doi.org/10.1007/s12020-021-02607-2.
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Abstract Background Medullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. Purpose To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis. Methods A retrospective case series from the University Medical Center Utrecht/Wilhelmina Children’s Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed. Results Intestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood—in three patients (also) triggered by oral neuromas/neurofibromas—led to recurrent, persistent, and/or progressive MTC in five patients. Conclusions Neonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery.
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Sanghamitra Mukherjee, Debajyoti Singha Roy, Vandana Maroo, and Meghadipa Mandal. "Incidental pathologies in appendectomy specimens - An interesting series of cases in a tertiary care center in Eastern India." Asian Journal of Medical Sciences 14, no. 8 (2023): 278–85. https://doi.org/10.71152/ajms.v14i8.3698.
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Acute appendicitis is the most common surgical emergency worldwide, with appendix being the most frequently encountered specimen by a reporting histopathologist. They may sometimes show rare and uncommon histomorphologic pictures that may create diagnostic dilemmas, few of such cases being discussed here. There are two cases of appendicular neuroendocrine tumors (NETs) that initially presented as acute appendicitis clinically, with microscopic tumor foci measuring <1 cm each. Immunohistochemistry for synaptophysin substantiated the histopathological diagnosis in one case. Neurogenic appendicopathy is another non-neoplastic entity discussed that may be overdiagnosed as appendicular neoplasms such as NET, neuromas, or neurofibromas. Granulomatous appendicitis may be another cause of recurrent appendicitis due to a variety of cases, tuberculosis being one of them and antitubercular therapy being the mainstay of treatment for these cases. Xanthogranulomatous appendicitis may simulate colonic malignancy, Crohn’s disease, malakoplakia, etc. Histopathological features are the main diagnostic modalities for these instances. Pinworm is a common helminthic infection of the gastrointestinal tract. Currently, its incidence is on the declining side due to better sanitation practices. However, it must be reported in appendectomy sections, if present, to initiate a course of antihelminthic drugs. Pseudomyxoma peritonei is an uncommon entity classically characterized by mucinous ascites resulting from ruptured appendiceal mucinous tumors, one such rare case being reported here. Low-grade appendiceal mucinous neoplasm is a distinctive entity rarely seen in appendectomy cases, belonging to groups of appendiceal mucinous neoplasms. One such instance has been depicted here.