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Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.
Dewire, Mariko D; Ellison, David W; Patay, Zoltan; McKinnon, Peter J; Sanders, Robert P; Gajjar, Amar.
Afiliação
  • Dewire MD; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA. mariko.dewire@stjude.org
Pediatr Blood Cancer ; 53(6): 1140-2, 2009 Dec.
Article em En | MEDLINE | ID: mdl-19530235
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Medula Espinal / Tumores Neuroectodérmicos Primitivos / Proteína BRCA2 / Anemia de Fanconi / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2009 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Medula Espinal / Tumores Neuroectodérmicos Primitivos / Proteína BRCA2 / Anemia de Fanconi / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2009 Tipo de documento: Article