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

Pediatr Blood Cancer. 2009 Dec;53(6):1140-2. doi: 10.1002/pbc.22139.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • BRCA2 Protein / genetics*
  • Fanconi Anemia / complications*
  • Fanconi Anemia / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Male
  • Medulloblastoma / diagnosis
  • Medulloblastoma / genetics
  • Mutation*
  • Neuroectodermal Tumors, Primitive / diagnosis
  • Neuroectodermal Tumors, Primitive / genetics*
  • Siblings
  • Spinal Cord Neoplasms / diagnosis
  • Spinal Cord Neoplasms / genetics*


  • BRCA2 Protein