title: Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.
abstract: Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance. It is caused by heterozygous germline mutations in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Carriers are at high-risk for developing colorectal carcinomas, as well as various extracolonic malignancies. This case report describes a 15 year-old male with a confirmed germline mutation of MSH2 and early onset anaplastic oligodendroglioma. The patient's tumor showed loss of expression of MSH2 and MSH6 proteins with normal microsatellite stability. The immunohistochemical staining pattern provided strong evidence to support the inclusion of anaplastic oligodendroglioma as part of the spectrum of tumors found in Lynch syndrome.
authors.affiliation: Children's Cancer Centre, Royal Children's Hospital, Melbourne, Victoria, Australia. john.heath@rch.org.au
authors.forename: John A
authors.initials: JA
authors.lastname: Heath
authors.forename: Jessica
authors.initials: J
authors.lastname: Ng
authors.forename: Victoria
authors.initials: V
authors.lastname: Beshay
authors.forename: Lee
authors.initials: L
authors.lastname: Coleman
authors.forename: Patrick
authors.initials: P
authors.lastname: Lo
authors.forename: David J
authors.initials: DJ
authors.lastname: Amor
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009837:Oligodendroglioma / Q000235:genetics* / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein