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

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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Doros L,Yang J,Dehner L,Rossi CT,Skiver K,Jarzembowski JA,Messinger Y,Schultz KA,Williams G,André N,Hill DA

doi

10.1002/pbc.24020

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

558-60

issue

3

eissn

1545-5009

issn

1545-5017

journal_volume

59

pub_type

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