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Pediatr Blood Cancer. 2012 Sep;59(3):558-60. doi: 10.1002/pbc.24020. Epub 2011 Dec 16.

DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

Author information

1
Department of Pathology, Children's National Medical Center, Washington, District of Columbia 20010, USA.

Abstract

Embryonal rhabdomyosarcoma (ERMS) is the most common childhood sarcoma and is a component of the familial pleuropulmonary blastoma (PPB)-predisposition syndrome. Using the PPB model, we hypothesized that DICER1 mutations would be found in familial and sporadic forms of ERMS. Blood samples from four children with familial PPB and ERMS, and 52 sporadic ERMS tumors were tested for DICER1 mutations. Germline DICER1 mutations were found in all four patients with familial PPB and 2 of 52 (3.8%) sporadic ERMS had somatic mutations. Our findings confirm the pathogenetic relationship between ERMS and PPB suggesting that ERMS may result from abnormal miRNA regulation.

PMID:
22180160
PMCID:
PMC3708486
DOI:
10.1002/pbc.24020
[Indexed for MEDLINE]
Free PMC Article

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