title: Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.
abstract: Medulloblastoma, the most common pediatric malignant brain tumor often arises sporadically; however, in a subgroup of patients, there exist familial conditions such as Fanconi anemia with biallelic BRCA2 mutation that predispose patients to developing medulloblastoma. Biallelic inactivation of BRCA2 in Fanconi anemia has been previously described in only 11 patients with medulloblastoma in the literature to date. Here we report two siblings diagnosed with central nervous system embryonal tumors at an early age in association with biallelic BRCA2 inactivation, including the first reported case of a spinal cord primitive neuroectodermal tumor (PNET) in a BRCA2/FANCD1 kindred.
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA. mariko.dewire@stjude.org
authors.forename: Mariko D
authors.initials: MD
authors.lastname: Dewire
authors.forename: David W
authors.initials: DW
authors.lastname: Ellison
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Patay
authors.forename: Peter J
authors.initials: PJ
authors.lastname: McKinnon
authors.forename: Robert P
authors.initials: RP
authors.lastname: Sanders
authors.forename: Amar
authors.initials: A
authors.lastname: Gajjar
mesh_terms: D000483:Alleles; D024682:BRCA2 Protein / Q000235:genetics*; D005199:Fanconi Anemia / Q000150:complications* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008527:Medulloblastoma / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis / Q000235:genetics*; D035781:Siblings; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein