دورية أكاديمية
أعرض في EDS

A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.

التفاصيل البيبلوغرافية
العنوان: A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.
المؤلفون: Cipri S; Department of Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Del Baldo G; Department of Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Carai A; Department of Neurosciences, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cacchione A; Department of Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rossi S; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Colafati GS; Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Neuroscience, Imaging and Clinical Sciences (DNISC), University 'Gabriele D'Annunzio' of Chieti-Pescara, Chieti, Italy., Boccuto L; Healthcare Genetics Program, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, South Carolina, USA., Mastronuzzi A; Department of Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
المصدر: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2024 Apr; Vol. 50 (2), pp. e12968.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford, Blackwell Scientific Publications.
مواضيع طبية MeSH: Medulloblastoma* , Cerebellar Neoplasms* , Colorectal Neoplasms*/pathology, Humans ; Germ-Line Mutation ; Mutation ; Genetic Predisposition to Disease
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Colas C, Bonadona V, Baert-Desurmont S, et al. MUTYH-associated polyposis: review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa). Eur J Med Genet. 2020;63(12):104078. doi:10.1016/j.ejmg.2020.104078.
Villy MC, Masliah-Planchon J, Buecher B, et al. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2022;65(1):104385. doi:10.1016/j.ejmg.2021.104385.
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Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30.
Kline CN, Joseph NM, Grenert JP, et al. Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. Neuro Oncol. 2016;18(5):752-753. doi:10.1093/neuonc/now013.
Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976-1985.e10. doi:10.1053/j.gastro.2009.08.052.
معلومات مُعتمدة: European Reference Network Genetic Tumour Risk Syndromes (ERN GENTURIS); 'Il Laboratorio di Chiara' Foundation
فهرسة مساهمة: Keywords: MUTYH; cancer predisposition syndrome; medulloblastoma; paediatric brain tumours
تواريخ الأحداث: Date Created: 20240313 Date Completed: 20240314 Latest Revision: 20240314
رمز التحديث: 20240314
DOI: 10.1111/nan.12968
PMID: 38477379
قاعدة البيانات: MEDLINE
الوصف
تدمد:1365-2990
DOI:10.1111/nan.12968