Glioblastoma multiforme in the Muir–Torre syndrome
| Autor: | Christine L. Hann, Gary L. Gallia, Alessandro Olivi, Avadhut D. Joshi, Michael W. Johnson, Gregory J. Riggins, Constance A. Griffin, Zev A. Binder |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Skin Neoplasms Adenocarcinoma DNA Mismatch Repair Neurosurgical Procedures Article Fatal Outcome Germline mutation Muir–Torre syndrome medicine Humans neoplasms MutS Homolog 2 Protein Brain Neoplasms urogenital system business.industry Microsatellite instability General Medicine medicine.disease Immunohistochemistry Magnetic Resonance Imaging digestive system diseases Pedigree DNA-Binding Proteins MSH6 Muir-Torre Syndrome MSH2 Colonic Neoplasms Surgery DNA mismatch repair Neurology (clinical) Glioblastoma business |
| Zdroj: | Clinical Neurology and Neurosurgery. 113:411-415 |
| ISSN: | 0303-8467 |
| DOI: | 10.1016/j.clineuro.2010.12.011 |
| Popis: | Muir–Torre syndrome (MTS) is an autosomal dominant subtype of nonpolyposis colorectal carcinoma (HNPCC) characterized by the development of sebaceous gland tumors and visceral malignancies. The most common subtype of MTS is characterized by germline mutations in mismatch repair (MMR) genes leading to microsatellite instability (MSI). Central nervous system tumors have only rarely been associated with MTS. In this report, we describe the development of a glioblastoma multiforme (GBM) in a patient with MTS. Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6). |
| Databáze: | OpenAIRE |
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