DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome
Leslie Doros, Jiandong Yang, Louis Dehner, Christopher T Rossi, Kerry Skiver, Jason A Jarzembowski, Yoav Messinger, Kris Ann Schultz, Gretchen Williams, Nicolas André, D Ashley Hill, Leslie Doros, Jiandong Yang, Louis Dehner, Christopher T Rossi, Kerry Skiver, Jason A Jarzembowski, Yoav Messinger, Kris Ann Schultz, Gretchen Williams, Nicolas André, D Ashley Hill
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.
Conflict of interest statement
Conflict of interest: nothing to declare
Copyright © 2011 Wiley Periodicals, Inc.
Source: PubMed