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Journal articles on the topic 'Pediatric Cancer Susceptibility'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Plon, Sharon E., and Katherine Nathanson. "Inherited Susceptibility for Pediatric Cancer." Cancer Journal 11, no. 4 (2005): 255–67. http://dx.doi.org/10.1097/00130404-200507000-00002.

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McReynolds, Lisa J., and Sharon A. Savage. "Pediatric leukemia susceptibility disorders: manifestations and management." Hematology 2017, no. 1 (2017): 242–50. http://dx.doi.org/10.1182/asheducation-2017.1.242.

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Abstract The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cel

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Kennedy, Richard D., and Alan D. D'Andrea. "DNA Repair Pathways in Clinical Practice: Lessons From Pediatric Cancer Susceptibility Syndromes." Journal of Clinical Oncology 24, no. 23 (2006): 3799–808. http://dx.doi.org/10.1200/jco.2005.05.4171.

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Human cancers exhibit genomic instability and an increased mutation rate due to underlying defects in DNA repair. Cancer cells are often defective in one of six major DNA repair pathways, namely: mismatch repair, base excision repair, nucleotide excision repair, homologous recombination, nonhomologous endjoining and translesion synthesis. The specific DNA repair pathway affected is predictive of the kinds of mutations, the tumor drug sensitivity, and the treatment outcome. The study of rare inherited DNA repair disorders, such as Fanconi anemia, has yielded new insights to drug sensitivity and

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Godinez Paredes, Jesica M., Claudia Garrido, Patricia Calderón, et al. "Abstract 2273: The spectrum of germline cancer gene mutations in Central American pediatric cancer." Cancer Research 85, no. 8_Supplement_1 (2025): 2273. https://doi.org/10.1158/1538-7445.am2025-2273.

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Abstract Pediatric cancers are a diverse set of both hematologic and solid malignancies. Approximately 5% of pediatric cancer cases are caused by known genetic conditions, but little is known about genetic susceptibility in Central American children. Most pediatric leukemia and lymphoma cases have high response and cure rates, and many solid malignancies have better outcomes than similar adult cancers. We evaluated the germline genetic variation of pediatric solid tumor cases in Guatemala and Nicaragua in reference hospitals, capturing most of the cancer cases nationwide. We performed exome se

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Cornel, Annelisa M., Loutje van der Sman, Jip T. van Dinter, et al. "Targeting pediatric cancers via T-cell recognition of the monomorphic MHC class I-related protein MR1." Journal for ImmunoTherapy of Cancer 12, no. 3 (2024): e007538. http://dx.doi.org/10.1136/jitc-2023-007538.

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Human leukocyte antigen (HLA) restriction of conventional T-cell targeting introduces complexity in generating T-cell therapy strategies for patients with cancer with diverse HLA-backgrounds. A subpopulation of atypical, major histocompatibility complex-I related protein 1 (MR1)-restricted T-cells, distinctive from mucosal-associated invariant T-cells (MAITs), was recently identified recognizing currently unidentified MR1-presented cancer-specific metabolites. It is hypothesized that the MC.7.G5 MR1T-clone has potential as a pan-cancer, pan-population T-cell immunotherapy approach. These cells

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Nirmalkar, Nikita, Ishani Arora, Vaishnavi H. Mishra, Gulshan R. Bandre, and Yugeshwari R. Tiwade. "Genetic Susceptibility and Treatment Personalization in Acute Lymphoblastic Leukemia: A Comprehensive Review of Genetic Susceptibility and Targeted Therapies." Journal of Applied Hematology 15, no. 3 (2024): 163–68. http://dx.doi.org/10.4103/joah.joah_40_24.

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Abstract Acute lymphoblastic leukemia (ALL) in children is a complicated and heterogeneous disease impacted by various genetic susceptibility factors. The significance of genetic testing in pediatric ALL diagnosis and management, the role of minimal residual disease (MRD) monitoring, and ethical issues and problems in pediatric genetic testing are discussed in this narrative review. It also looks ahead to the future of genetic susceptibility research, focusing on data integration, artificial intelligence-driven insights, and the possible finding of novel treatment targets. We hope to provide a

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Liu, Zan, Zhenghui Xiao, Ming Li, et al. "Association Between Arg72Pro Polymorphism in TP53 and Malignant Abdominal Solid Tumor Risk in Hunan Children." Cancer Control 28 (January 1, 2021): 107327482110048. http://dx.doi.org/10.1177/10732748211004880.

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Pediatric solid tumors are heterogeneous and comprise various histological subtypes. TP53, a tumor suppressor, orchestrates the transcriptional activation of anti-cancer genes. The gene coding for this protein is highly polymorphic, and its mutations are associated with cancer development. The Arg72Pro polymorphism in TP53 has been associated with susceptibility to various types of cancer. Here, in this hospital-based study, we evaluated the association of this polymorphism with susceptibility toward malignant abdominal solid tumors in children in the Hunan province of China. We enrolled 162 p

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Patenaude, A. F., L. Basili, D. L. Fairclough, and F. P. Li. "Attitudes of 47 mothers of pediatric oncology patients toward genetic testing for cancer predisposition." Journal of Clinical Oncology 14, no. 2 (1996): 415–21. http://dx.doi.org/10.1200/jco.1996.14.2.415.

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PURPOSE To assess attitudes toward testing for cancer susceptibility genes, we interviewed mothers of pediatric oncology patients about their cancer causation theories, interest in hypothetical predisposition testing for themselves and their healthy children, and anticipated impact of testing. PATIENTS AND METHODS The subjects were 47 mothers of two or more living children, one of whom was 6 to 24 months postdiagnosis of cancer. Potential risks and benefits of hypothetical genetic predisposition testing for cancer susceptibility were described. A semistructured interview assessed the following

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Kara, Buket, and Yavuz Koksal. "Pediatric Lymphoma and Solid Tumors Associated With Cancer Susceptibility Syndromes." Journal of Pediatric Hematology/Oncology 42, no. 7 (2020): 438–45. http://dx.doi.org/10.1097/mph.0000000000001798.

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Hadi, Dalal Abbas. "Spectrum of Bacterial Infection and Antibiotic Susceptibility Profile among Clinical Samples of Febrile Pediatric Cancer Patients under Chemotherapy." International Journal of Psychosocial Rehabilitation 24, no. 5 (2020): 1189–203. http://dx.doi.org/10.37200/ijpr/v24i5/pr201794.

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Madney. Said, Youssef, Riham Abdelaziz, Shimaa Samir, and Mervat Elanany. "2689. Stenotrphomonas maltophilia, The Hidden Threat Among Pediatric Cancer Patients." Open Forum Infectious Diseases 6, Supplement_2 (2019): S944—S945. http://dx.doi.org/10.1093/ofid/ofz360.2366.

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Abstract Background Stenotrophomonas maltophilia is an emerging nosocomial pathogen in immunocompromised patients. Although S. maltophilia exhibits limited pathogenicity in immunocompetent hosts, it has been shown to cause fatal infections in patients with malignancies. The objective of this study to analyze the clinical characteristics, susceptibility pattern, and treatment outcome of S. maltophilia among pediatric cancer patients. Methods Retrospective analysis including all pediatric cancer patients treated at children cancer hospital Egypt (CCHE) with S. maltophilia bloodstream infection f

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David, Peter Oloche O. "Abstract A028 Unraveling the complex interplay of genetic, environmental, and lifestyle factors in cancer predisposition: A comprehensive review and analysis." Cancer Research 84, no. 17_Supplement (2024): A028. http://dx.doi.org/10.1158/1538-7445.pediatric24-a028.

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Abstract Cancer Predisposition is a complex and multifaceted topic that continues to intrigue researchers and scientists for decades. This thesis delves into the intricate web of factors that contribute to an individual's predisposition to cancer, aiming to unravel the mysteries surrounding this phenomenon. Through a comprehensive review of existing literature and cutting-edge research findings, the paper explores the genetic, environmental, and lifestyle factors that play a crucial role in predisposing individuals to cancer. By examining the interplay between genetic mutations, familial histo

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Worku, Minichil, Gizeaddis Belay, and Abiye Tigabu. "Bacterial profile and antimicrobial susceptibility patterns in cancer patients." PLOS ONE 17, no. 4 (2022): e0266919. http://dx.doi.org/10.1371/journal.pone.0266919.

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Background Bloodstream infections have been the leading complications in cancer patients because they are at high risk for antibiotic-resistant bacterial infections. There is increasing evidence from different parts of the world of the high prevalence of antimicrobial-resistant bacterial strains in cancer patients. The burden of the infection is high in developing countries, especially in Ethiopia. Data on bacterial profile and antimicrobial susceptibility patterns among cancer patients in Ethiopia is limited. Thus, this study aimed to determine the predominant bacterial species causing bacter

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Hymowitz, Norman. "Cigarette Smoking and Lung Cancer: Pediatric Roots." Lung Cancer International 2012 (August 30, 2012): 1–7. http://dx.doi.org/10.1155/2012/790841.

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A vast array of data suggests that early age of smoking onset enhances the risk for development of lung cancer in adulthood. Initiation of smoking at a young age may influence the development of lung cancer because of its effect on duration of smoking. Early onset of smoking also may serve as an independent risk factor. It may increase the likelihood that smoking occurs during a critical period of development that enhances susceptibility to the adverse effects of cancer causing agents in cigarette smoke, thereby facilitating the initiation of the carcinogenic process. While evidence for the la

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Patel, Chadni, Jeremy Willekens, Frank Diglio, and Peter Cole. "Abstract 7452: ApoE genotype influences susceptibility to doxorubicin-induced cognitive impairment in juvenile rats." Cancer Research 84, no. 6_Supplement (2024): 7452. http://dx.doi.org/10.1158/1538-7445.am2024-7452.

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Abstract Many pediatric cancer survivors experience chemotherapy-induced cognitive impairment (CICI), which negatively impacts the quality of life. Despite extensive research into the multifactorial causes of CICI, there are no FDA approved drugs available to prevent it and the interpatient variability in susceptibility to CICI is not well understood. Among pediatric cancer survivors, those with the E4 allele of Apolipoprotein E (ApoE) are more likely to exhibit cognitive dysfunction than those with the more prevalent ApoE3 allele, suggesting the ApoE4 allele increases susceptibility to CICI.

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Adel Fahmideh, M., C. Lavebratt, J. Schüz, et al. "1055 CCDC26, CDKN2BAS, RTEL1, and TERT polymorphisms in pediatric brain tumor susceptibility." European Journal of Cancer 51 (September 2015): S163. http://dx.doi.org/10.1016/s0959-8049(16)30481-6.

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Martínez-Beckerat, R., C. Alas-Pineda, M. Melgar-Gonzales, et al. "Pediatric Case of Li–Fraumeni Syndrome in Honduras." Case Reports in Pediatrics 2021 (January 11, 2021): 1–4. http://dx.doi.org/10.1155/2021/6612802.

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Li–Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0.3 cases per 1,000,000 people, of which 40% turn out to be carcinomas. We present a 12-year-old boy with a history of worsening headaches of more than one month, gait disturbance, projectile vomiting, and right hemiparesis. An intraventricular tumor was identified in the occipital of the left lateral ventricle, wh

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Trubicka, Joanna, Wiesława Grajkowska, and Bożenna Dembowska-Bagińska. "Molecular Markers of Pediatric Solid Tumors—Diagnosis, Optimizing Treatments, and Determining Susceptibility: Current State and Future Directions." Cells 11, no. 7 (2022): 1238. http://dx.doi.org/10.3390/cells11071238.

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Advances in molecular technologies, from genomics and transcriptomics to epigenetics, are providing unprecedented insight into the molecular landscape of pediatric tumors. Multi-omics approaches provide an opportunity to identify a wide spectrum of molecular alterations that account for the initiation of the neoplastic process in children, response to treatment and disease progression. The detection of molecular markers is crucial to assist clinicians in accurate tumor diagnosis, risk stratification, disease subtyping, prediction of treatment response, and surveillance, allowing also for perso

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Fahmideh, Maral Adel, Spiridon Tsavachidis, Stephen C. Mack, et al. "Abstract 1448: Novel specific susceptibility loci identified for pediatric and adult ependymoma in first histology-specific genome-wide association study." Cancer Research 82, no. 12_Supplement (2022): 1448. http://dx.doi.org/10.1158/1538-7445.am2022-1448.

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Abstract Despite extensive research, a small proportion of the variants contributing to the genetic architecture of brain tumors have been reported. The published GWAS have been largely performed on pooled histological subtypes of glioma and most of these studies have been conducted primarily for adult tumors. Therefore, we aimed to perform the first GWAS specifically for ependymoma to identify the genetic variants associated with the risk of these tumors and to investigate the similarities/differences between the genetic architectures of adult and pediatric ependymomas. Germline SNP-array dat

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Alamoudi, Raed Mohammed, Abdullah Hamad Alzaid, Shihnaz Mohammed Algarni, et al. "Oral health challenges in pediatric oncology patients." International Journal Of Community Medicine And Public Health 11, no. 10 (2024): 4097–100. http://dx.doi.org/10.18203/2394-6040.ijcmph20242898.

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Pediatric oncology patients face significant oral health challenges due to the adverse effects of chemotherapy and radiation therapy. These treatments, while essential for cancer management, often lead to complications such as mucositis, xerostomia, and increased susceptibility to oral infections. Mucositis, characterized by painful inflammation and ulceration of the oral mucosa, can severely impact a child’s ability to eat, speak, and maintain oral hygiene, leading to additional health complications and potential interruptions in cancer treatment. Xerostomia, or dry mouth, resulting from radi

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Gargallo, Pablo, Silvestre Oltra, Yania Yáñez, et al. "Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care." Cancers 13, no. 21 (2021): 5339. http://dx.doi.org/10.3390/cancers13215339.

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Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the pati

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McDonald, L. Clifford, Feng-Jui Chen, Hsiu-Jung Lo, et al. "Emergence of Reduced Susceptibility and Resistance to Fluoroquinolones in Escherichia coliin Taiwan and Contributions of Distinct Selective Pressures." Antimicrobial Agents and Chemotherapy 45, no. 11 (2001): 3084–91. http://dx.doi.org/10.1128/aac.45.11.3084-3091.2001.

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ABSTRACT A survey of 1,203 Escherichia coli isolates from 44 hospitals in Taiwan revealed that 136 (11.3%) isolates were resistant to fluoroquinolones and that another 261 (21.7%) isolates had reduced susceptibility. Resistance was more common in isolates responsible for hospital-acquired (mostly in intensive care units) infections (17.5%) than in other adult inpatient (11.4%; P = 0.08) and outpatient isolates (11.9%; P > 0.1). Similarly, reduced susceptibility was more common in isolates responsible for hospital-acquired infections (30.9%) than in other adult inpatient (21.0%; P = 0.04) an

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Vazaios, Konstantinos, Eftychia Stavrakaki, Lisette Vogelezang, et al. "THER-02. Pediatric brain tumor cultures reveal differential susceptibility to four oncolytic viruses." Neuro-Oncology 24, Supplement_1 (2022): i186. http://dx.doi.org/10.1093/neuonc/noac079.696.

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Abstract INTRODUCTION: New therapeutic modalities such as Oncolytic viruses (OVs) are considered possible treatment options for pediatric brain tumors (PBTs) either as monotherapy or as adjuvants to immunotherapies. OVs specifically lyse tumor cells and can induce anti-tumor immune responses. Here, we evaluate the oncolytic potency of different clinically relevant OVs against various PBT entities. METHODS: The effect of four different OVs, Reovirus (R124), Newcastle Disease virus (NDV), Adenovirus (DNX-2401) and Herpes simplex virus-1 (rQNestin 34.5v.1), was assessed on patient-derived cell cu

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Stergiotis, Melina, Roland A. Ammann, Sara Droz, Christa Koenig, and Philipp Kwame Abayie Agyeman. "Pediatric fever in neutropenia with bacteremia—Pathogen distribution and in vitro antibiotic susceptibility patterns over time in a retrospective single-center cohort study." PLOS ONE 16, no. 2 (2021): e0246654. http://dx.doi.org/10.1371/journal.pone.0246654.

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Background Fever in neutropenia (FN) is a potentially life-threatening complication of chemotherapy in pediatric cancer patients. The current standard of care at most institutions is emergency hospitalization and empirical initiation of broad-spectrum antibiotic therapy. Methods We analyzed in retrospect FN episodes with bacteremia in pediatric cancer patients in a single center cohort from 1993 to 2012. We assessed the distribution of pathogens, the in vitro antibiotic susceptibility patterns, and their trends over time. Results From a total of 703 FN episodes reported, we assessed 134 FN epi

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Bertuccio, Salvatore Nicola, Laura Anselmi, Riccardo Masetti, et al. "Exploiting Clonal Evolution to Improve the Diagnosis and Treatment Efficacy Prediction in Pediatric AML." Cancers 13, no. 9 (2021): 1995. http://dx.doi.org/10.3390/cancers13091995.

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Despite improvements in therapeutic protocols and in risk stratification, acute myeloid leukemia (AML) remains the leading cause of childhood leukemic mortality. Indeed, the overall survival accounts for ~70% but still ~30% of pediatric patients experience relapse, with poor response to conventional chemotherapy. Thus, there is an urgent need to improve diagnosis and treatment efficacy prediction in the context of this disease. Nowadays, in the era of high throughput techniques, AML has emerged as an extremely heterogeneous disease from a genetic point of view. Different subclones characterize

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Pierce, Joshua L., A. Lindsay Frazier, and James F. Amatruda. "Pediatric Germ Cell Tumors: A Developmental Perspective." Advances in Urology 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/9059382.

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Germ cell tumors (GCTs) arising in infants, children, and adolescents present a set of special challenges. GCTs make up about 3% of malignancies in children aged 0–18 and nearly 15% of cancers in adolescents. Epidemiologic and molecular evidence suggests that GCTs in young children likely represent a distinct biologic group as compared to GCTs of older adolescents and adults. Despite this difference, pediatric GCTs are typically treated with cisplatin-based multiagent regimens similar to those used in adults. There is evidence that children are particularly vulnerable to late effects of conven

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Alex Egbuchiem. "Nitrate-Induced DNA damage and carcinogenesis in children: Agrochemical contaminants as hidden catalysts for pediatric cancer proliferation." World Journal of Advanced Research and Reviews 25, no. 2 (2025): 1518–35. https://doi.org/10.30574/wjarr.2025.25.2.0533.

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Nitrate contamination, primarily derived from agrochemical runoff, fertilizers, and industrial waste, has emerged as a significant environmental and public health concern, particularly for children. As a prevalent groundwater pollutant, nitrates undergo biochemical conversion to nitrites and N-nitroso compounds (NOCs), which exhibit potent genotoxic and carcinogenic properties. Chronic exposure to these compounds has been linked to DNA damage, oxidative stress, and epigenetic alterations, raising concerns about their role in pediatric cancer proliferation. Epidemiological studies suggest a str

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Kim, Jung, Nicholas Light, Vallijah Subasri, et al. "Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma." JCO Precision Oncology, no. 5 (January 2021): 75–87. http://dx.doi.org/10.1200/po.20.00218.

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PURPOSE Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, independent RMS cohorts. MATERIALS AND METHODS Genome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA. Analyses were performed on 130 cancer susceptibility genes (CSG). Pathogenic or likely pathogenic (P/LP) variants were predicted using the American College of Medical Genetics a

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Lai, Hung-Hsiang, and Ming-Wei Lai. "Treatment of Pediatric Helicobacter pylori Infection." Antibiotics 11, no. 6 (2022): 757. http://dx.doi.org/10.3390/antibiotics11060757.

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Helicobacter pylori infection can cause gastritis, gastric or duodenal ulcers, mucosa-associated lymphoid tissue lymphoma, gastric cancer, and extra-gastrointestinal manifestations. Ideal treatment should be guided by antibiotic susceptibility testing. However, this is not feasible in many regions, so the treatment generally relies on clinical experience and regional culture sensitivity profiles. We aimed to integrate the treatment of pediatric H. pylori infection through a systematic literature review. Databases including PubMed, Cochrane Library, EMBASE, and Scholar were searched using terms

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Roady, Tyler J., Nolan Stubbs, Josephine Chen, et al. "Abstract 3173: Impact of hypoxia on the integrated stress response activated by imipridones ONC201 and ONC206 in pediatric diffuse midline glioma cells." Cancer Research 84, no. 6_Supplement (2024): 3173. http://dx.doi.org/10.1158/1538-7445.am2024-3173.

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Abstract Diffuse midline gliomas (DMGs) are highly aggressive, high-grade gliomas which typically arise in children and young adults. With currently approved treatments the median survival from time of diagnosis for pediatric DMG is 8-10 months with only 10% of children living to 2 years post diagnosis. Despite being only 15% of the cases it makes up 40% of the pediatric brain cancer deaths making it the leading cause of death for all pediatric glioma cases. Two recent clinical studies, NCT03416530 and NCT03134131, have shown the clinical efficacy of Dordaviprone (ONC201/TIC10) for the treatme

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Nava Ruiz, E. A., M. Feliciano, C. López Argüello, and M. Caniza. "#20: Bloodstream Infections in Pediatric Hematology/Oncology Patients: 3 Years’ Experience of a Specialty Pediatrics Hospital in Tuxtla Gutierrez Chiapas. Mexico." Journal of the Pediatric Infectious Diseases Society 10, Supplement_1 (2021): S22. http://dx.doi.org/10.1093/jpids/piaa170.071.

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Abstract Background Bloodstream infections are the major cause of morbidity, increased cost, prolonged hospitalization, and mortality in pediatric patients. During treatment, cancer patients require a central vascular access; however, central venous catheters are an important source of bloodstream infections. Rigorous infection control measures and continuous surveillance are required to curb the frequency of these infections. Objective We aimed to identify the causative microorganisms in patients with central line–associated bloodstream infection (CLABSI) in hematology-oncology pediatric pati

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Brown, Austin L., Kevin J. Biclamowicz, Rona Sonabend, et al. "Genome-wide discovery of novel susceptibility loci for treatment-associated hypothyroidism among survivors of pediatric medulloblastoma." Journal of Clinical Oncology 35, no. 15_suppl (2017): 10571. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.10571.

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10571 Background: Pediatric medulloblastoma patients exposed to craniospinal radiation (CSI) are at high risk of developing endocrinopathies, including hypothyroidism. We sought to evaluate the role of genetic variation on hypothyroidism susceptibility among survivors of pediatric medullobastoma. Methods: Records from 61 medulloblastoma survivors treated at Texas Children’s Hospital between 1997 and 2013 were reviewed. All patients completed baseline and yearly follow-up thyroid assessments. Genome-wide genotyping was performed on Illumina HumanOmni1 and HumanOmni2.5 BeadChip single nucleotide

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Fischer, Nicholas W., Brianne Laverty, Noa Alon, et al. "Abstract A005 TP53 variant clusters stratify the Li-Fraumeni spectrum and reveal an osteosarcoma-prone subgroup." Cancer Research 84, no. 17_Supplement (2024): A005. http://dx.doi.org/10.1158/1538-7445.pediatric24-a005.

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Abstract Li-Fraumeni syndrome (LFS) has recently been redefined as a ‘spectrum’ cancer predisposition disorder to reflect its broad phenotypic heterogeneity. The wide functional gradient associated with different TP53 variants is thought to contribute to LFS heterogeneity, although it is still poorly understood and there is an unmet clinical need for risk stratification strategies. Leveraging p53 mutagenesis datasets, we performed an unsupervised cluster analysis that revealed five TP53 variant clusters with unique structural and functional consequences. Classifying variant carriers according

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Parsons, Donald W., Murali M. Chintagumpala, Stacey L. Berg, et al. "Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study." Journal of Clinical Oncology 31, no. 15_suppl (2013): 10023. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.10023.

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10023 Background: Advances in sequencing technologies allow for provision of genome-scale data to oncologists and geneticists caring for pediatric cancer patients. The goal of the BASIC3 (Baylor Advancing Sequencing into Childhood Cancer Care) study is to determine the clinical impact of incorporating CLIA-certified tumor and constitutional exome sequencing into the care of children with newly diagnosed solid tumors. Methods: Blood and frozen tumor samples obtained at initial surgery are submitted for clinical exome sequencing (target enrollment 280 patients). Results are deposited into the el

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Laemmerer, Anna, Dominik Kirchhofer, Sibylle Madlener, et al. "CBIO-22. PARP INHIBITION SYNERGIZES WITH DNA DAMAGING DRUGS IN PEDIATRIC CNS TUMORS." Neuro-Oncology 23, Supplement_6 (2021): vi31. http://dx.doi.org/10.1093/neuonc/noab196.121.

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Abstract BACKGROUND Central nervous system (CNS) tumors are the second most common childhood cancer. Despite innovations in surgery and chemo-/radiotherapy, CNS tumors remain the major cause of cancer-related death in children. Previous sequencing analyses in a pediatric cancer cohort identified BRCA and DSB repair signatures as potentially targetable events. Based on these findings, we propose the use of PARP inhibitors (PARPi) for aggressive CNS tumor subtypes, including high-grade glioma (HGG), medulloblastoma (MB) and ependymoma (EPN). METHODS We tested multiple PARPi in tumor cell lines (

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Bakht Jamal, Zeeshan Nawaz, Saira Uzma, Najma Shaheen, and Luqman khan. "INCIDENCE OF SALMONELLA INFECTION IN PEDIATRIC POPULATION IN SHAUKAT KHANUM MEMORIAL CANCER HOSPITAL AND RESEARCH CENTER, PAKISTAN." Insights-Journal of Health and Rehabilitation 3, no. 2 (Health & Rehab) (2025): 796–802. https://doi.org/10.71000/h3r8cj07.

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Background: Despite the introduction of antibiotics significantly reducing the mortality associated with Salmonella Typhi infections, the emergence of multidrug-resistant (MDR) and extensively drug-resistant (XDR) strains has created a critical public health challenge, particularly in endemic regions like Pakistan. The increasing resistance limits treatment options, complicates disease management, and underscores the need for continuous surveillance, especially among vulnerable pediatric populations including those with underlying malignancies. Objective: This study aimed to assess the prevale

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Scappaticcio, Lorenzo, Maria Ida Maiorino, Sergio Iorio, et al. "Exploring the Performance of Ultrasound Risk Stratification Systems in Thyroid Nodules of Pediatric Patients." Cancers 13, no. 21 (2021): 5304. http://dx.doi.org/10.3390/cancers13215304.

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Neck ultrasound (nUS) is the cornerstone of clinical management of thyroid nodules in pediatric patients, as well as adults. The current study was carried out to explore and compare the diagnostic performance of the main US-based risk stratification systems (RSSs) (i.e., the American College of Radiology (ACR), European (EU), Korean (K) TI-RADSs and ATA US RSS criteria) for detecting malignant thyroid lesions in pediatric patients. We conducted a retrospective analysis of consecutive children and adolescents who received a diagnosis of thyroid nodule. We included subjects with age <19 years

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Bornhorst, Miriam, Liana Nobre, Michal Zapotocky, et al. "PATH-14. GENETIC SUSCEPTIBILITY AND OUTCOMES OF PEDIATRIC, ADOLESCENT AND YOUNG ADULT IDH-MUTANT ASTROCYTOMAS." Neuro-Oncology 22, Supplement_3 (2020): iii427. http://dx.doi.org/10.1093/neuonc/noaa222.649.

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Abstract INTRODUCTION Previously thought to be rare, recent case series have shown that IDH mutations in young patients are more common than previously described. In this study, we analyzed IDH-mutant tumors to determine clinical significance of these mutations in children, adolescents and young adults. METHODS Through this multi-institution study (10 institutions), we collected 64 IDH1/2-mutant infiltrating astrocytoma specimens from 58 patients aged 4–26 (M:F, 0.4:0.6). Specimens included 46 low-grade (LGG) and 18 high-grade (HGG) astrocytomas. Tumor sequencing data (n=45), germline sequenci

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Silva, Raquel Ataide Peres, Tamara P. Pace-Emerson, Carlos Rodriguez-Galindo, A. Lindsay Frazier, and Karina Braga Ribeiro. "Socioeconomic status and incidence of pediatric embryonal tumors in the United States." Journal of Clinical Oncology 31, no. 15_suppl (2013): 10036. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.10036.

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10036 Background: Of the 13,000 children diagnosed with cancer each year in the United States (US), the embryonal solid tumors, neuroblastoma (NB), retinoblastoma (RB), Wilms tumors (WT), hepatoblastoma (HB), rhabdomyosarcomas (RMS) and germ cell tumors (GCT), account for over 30% of the cases. Social disparities in cancer are well studied for adults, but few studies have focused on children, mostly for leukemia. The aim of this study is to evaluate the differences in incidence of rare cancers according to socioeconomic status (SES). Methods: Cases aged 0-19 were identified from the Surveillan

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Bhatia, Smita. "Germline risk factors for second malignant neoplasms after treatment for pediatric hematologic malignancies." Hematology 2022, no. 1 (2022): 245–50. http://dx.doi.org/10.1182/hematology.2022000399.

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Abstract Survivors of childhood hematologic malignancies are at a substantially higher risk of developing subsequent neoplasms (SNs) when compared with the general population. SNs commonly observed in this population include basal cell carcinoma, brain tumors, thyroid cancer, breast cancer, bone tumors, and sarcoma. Radiation is the primary therapeutic exposure associated with the development of these SNs. There is emerging evidence of an association between chemotherapeutic exposures (alkylating agents/anthracyclines) and the development of SNs. Despite a strong dose-dependent association bet

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Miedema, Karin G. E., Rik H. L. J. Winter, Roland A. Ammann, et al. "Bacteria causing bacteremia in pediatric cancer patients presenting with febrile neutropenia—species distribution and susceptibility patterns." Supportive Care in Cancer 21, no. 9 (2013): 2417–26. http://dx.doi.org/10.1007/s00520-013-1797-4.

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Hoang, Thanh T., Omar Rosales, Elyse Burgess, Philip J. Lupo, Michael E. Scheurer, and Abiodun O. Oluyomi. "Clustering of Pediatric Brain Tumors in Texas, 2000–2017." Toxics 11, no. 4 (2023): 351. http://dx.doi.org/10.3390/toxics11040351.

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Risk factors for pediatric brain tumors are largely unknown. Identifying spatial clusters of these rare tumors on the basis of residential address may provide insights into childhood socio-environmental factors that increase susceptibility. From 2000–2017, the Texas Cancer Registry recorded 4305 primary brain tumors diagnosed among children (≤19 years old). We performed a spatial analysis in SaTScan to identify neighborhoods (census tracts) where the observed number of pediatric brain tumors was higher than expected. Within each census tract, the number of pediatric brain tumors was summed on

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Scaruffi, Paola. "The Transcribed-Ultraconserved Regions: A Novel Class of Long Noncoding RNAs Involved in Cancer Susceptibility." Scientific World JOURNAL 11 (2011): 340–52. http://dx.doi.org/10.1100/tsw.2011.35.

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During recent years, novel approaches and new technologies have revealed a startling level of complexity of higher eukaryotes' transcriptome. A large proportion of the transcriptional output is represented by protein noncoding RNAs (ncRNAs) that arise from the “dark matter” of the genome. Focus on such sequences has revealed numerous RNA subtypes with several functions in RNA processing and gene expression regulation, and deep sequencing studies imply that many remain to be discovered. This review gives a picture of the state of the art of a novel class of long ncRNA known as transcribed-ultra

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Brickler, Molly, Alexander Raskin, and Thomas D. Ryan. "Current State of Pediatric Cardio-Oncology: A Review." Children 9, no. 2 (2022): 127. http://dx.doi.org/10.3390/children9020127.

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The landscape of pediatric oncology has dramatically changed over the course of the past several decades with five-year survival rates surpassing 80%. Anthracycline therapy has been the cornerstone of many chemotherapy regimens for pediatric patients since its introduction in the 1960s, and recent improved survival has been in large part due to advancements in chemotherapy, refinement of supportive care treatments, and development of novel therapeutics such as small molecule inhibitors, chimeric antigen receptor T-cell therapy, and immune checkpoint inhibitors. Unfortunately, many cancer-targe

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Porter, Christopher C., Garrett M. Brodeur, Lisa Diller, et al. "Abstract A023 Establishment of the consortium for childhood cancer predisposition and the childhood cancer predisposition study." Cancer Research 84, no. 17_Supplement (2024): A023. http://dx.doi.org/10.1158/1538-7445.pediatric24-a023.

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Abstract Background: Genetic predisposition contributes to a much higher proportion of cancer in children than previously appreciated. This creates a unique opportunity to develop improved methods to identify children at increased risk for cancer, enable early detection or prevention of tumors, and improve cure rates with decreased morbidity. However, several challenges have impeded successful research and systematic approaches to the care of children with cancer predisposition. Methods: We established the Consortium for Childhood Cancer Predisposition (C3P), currently comprised of seven large

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Brown, Austin, Kevin Bielamowicz, Rona Sonabend, et al. "PDCT-22. GENOME-WIDE DISCOVERY OF NOVEL SUSCEPTIBILITY POLYMORPHISMS FOR TREATMENT-ASSOCIATED HYPOTHYROIDISM IN PEDIATRIC MEDULLOBLASTOMA." Neuro-Oncology 19, suppl_6 (2017): vi188—vi189. http://dx.doi.org/10.1093/neuonc/nox168.763.

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Lowry, Benjamin S., Hunter C. Jonus, Jasmine Lee, Trent H. Spencer, Anna M. Kenney, and Kelly Goldsmith. "Abstract 1790: Exploring the efficacy of allogeneic gamma delta T cell adoptive cell therapy against the pediatric brain tumor medulloblastoma." Cancer Research 83, no. 7_Supplement (2023): 1790. http://dx.doi.org/10.1158/1538-7445.am2023-1790.

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Abstract Antigenic heterogeneity and limited immune cell infiltration has historically hindered immunotherapy approaches to treat the pediatric brain tumor medulloblastoma (MB). Therefore, modern MB treatment modalities rely on broadly cytotoxic chemotherapy and/or radiation, leaving survivors with side effects that diminish quality of life, stressing an urgent need for novel approaches. Gamma delta (γδ) T cells represent an emerging class of cellular immunotherapy with preclinical potency against the CNS tumor glioblastoma and pediatric solid tumors. The ability of γδ T cells to recognize tum

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Wang, Zhaoming, Cheng Chen, Na Qin, et al. "Abstract 4516: Rare high-penetrance and common low-penetrance variants associated with risk of pediatric acute lymphoblastic leukemia." Cancer Research 83, no. 7_Supplement (2023): 4516. http://dx.doi.org/10.1158/1538-7445.am2023-4516.

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Abstract Leveraging existing genetic data for survivors of pediatric acute lymphoblastic leukemia (ALL) from the St. Jude Lifetime Cohort Study (SJLIFE) and Childhood Cancer Survivor Study (CCSS; the CCSS original cohort data was downloaded from dbGaP, phs001327.v2), genetic variants across the full allelic spectrum were analyzed for their associations with ALL risk. A total of 2,695 ALL cases with whole-genome or whole-exome sequencing were available for rare variant analyses. Pathogenic/likely pathogenic (P/LP) variants in 60 genes associated with autosomal dominant cancer predisposition syn

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Jastaniah, Wasil, Abdullah Aljefri, Mouhab Ayas, et al. "Prevalence of hereditary cancer susceptibility syndromes in children: A report from the Saudi Arabian Pediatric Hematology Oncology Society." Journal of Clinical Oncology 34, no. 15_suppl (2016): e13086-e13086. http://dx.doi.org/10.1200/jco.2016.34.15_suppl.e13086.

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Edington, Holly, Shanmuganathan Chandrakasan, Tamara Miller, Nicholas DeGroote, Ann Mertens, and Sharon Castellino. "4396 Immunoglobulin administration and hypogammaglobulinemia during pediatric acute leukemia therapy." Journal of Clinical and Translational Science 4, s1 (2020): 136–37. http://dx.doi.org/10.1017/cts.2020.404.

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OBJECTIVES/GOALS: Intravenous immunoglobulin (IVIG) is used for infection prevention in pediatric B-cell acute lymphoblastic leukemia (B-ALL), but evidence for this is lacking. We describe the prevalence of hypogammaglobulinemia in pediatric B-ALL, predictors of IVIG use and its efficacy for infection prevention. METHODS/STUDY POPULATION: We will conduct a retrospective review of children age 1-21 years with B-ALL treated at Aflac Cancer and Blood Disorders Center from 2010 to 2017. The cohort was identified through the cancer registry. Demographics, disease factors, laboratory values, medicat

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