title: Glioblastoma multiforme in the Muir-Torre syndrome.
abstract: 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).
authors.affiliation: Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
authors.forename: Zev A
authors.initials: ZA
authors.lastname: Binder
authors.forename: Michael W
authors.initials: MW
authors.lastname: Johnson
authors.forename: Avadhut
authors.initials: A
authors.lastname: Joshi
authors.forename: Christine L
authors.initials: CL
authors.lastname: Hann
authors.forename: Constance A
authors.initials: CA
authors.lastname: Griffin
authors.forename: Alessandro
authors.initials: A
authors.lastname: Olivi
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Riggins
authors.forename: Gary L
authors.initials: GL
authors.lastname: Gallia
mesh_terms: D000230:Adenocarcinoma / Q000150:complications / Q000473:pathology; D000328:Adult; D001932:Brain Neoplasms / Q000150:complications* / Q000235:genetics / Q000601:surgery; D003110:Colonic Neoplasms / Q000150:complications / Q000473:pathology; D053843:DNA Mismatch Repair; D004268:DNA-Binding Proteins / Q000235:genetics; D017809:Fatal Outcome; D005909:Glioblastoma / Q000150:complications* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D055653:Muir-Torre Syndrome / Q000150:complications* / Q000235:genetics / Q000601:surgery; D051718:MutS Homolog 2 Protein / Q000235:genetics; D019635:Neurosurgical Procedures; D010375:Pedigree; D012878:Skin Neoplasms / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein