Research article summary (published 29 Nov 2009):

Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.

Full 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.

Author information

Author/s: Dewire, Mariko D (MD); Ellison, David W (DW); Patay, Zoltan (Z); McKinnon, Peter J (PJ); Sanders, Robert P (RP); Gajjar, Amar (A);

Affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA. mariko.dewire(-atsign-)stjude.org

Grants: CA-21765 (Agency:NCI NIH HHS)

Journal and publication information

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal: Pediatric blood & cancer (Pediatr Blood Cancer), published in United States. (Language: eng)

Reference: 2009-Dec; vol 53 (issue 6) : pp 1140-2

Dates: Created 2009/09/16; Completed 2009/10/13;

PMID: 19530235, status: MEDLINE (last retrieval date: 10/13/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Alleles BRCA2 Protein - genetics Fanconi Anemia - complications; genetics Genetic Predisposition to Disease Humans Infant

Male Medulloblastoma - diagnosis; genetics Mutation Neuroectodermal Tumors, Primitive - diagnosis; genetics Siblings Spinal Cord Neoplasms - diagnosis; genetics

Associated Chemicals: BRCA2 Protein (0)

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