DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer 2012 Sep;59(3):558-60
Date
12/20/2011Pubmed ID
22180160Pubmed Central ID
PMC3708486DOI
10.1002/pbc.24020Scopus ID
2-s2.0-84863863372 (requires institutional sign-in at Scopus site) 143 CitationsAbstract
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.
Author List
Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski JA, Messinger Y, Schultz KA, Williams G, André N, Hill DAAuthor
Jason A. Jarzembowski MD, PhD Sr Associate Dean, CEO CSG, Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildChild, Preschool
DEAD-box RNA Helicases
Female
Humans
Infant
Male
Mutation
Pulmonary Blastoma
Rhabdomyosarcoma, Embryonal
Ribonuclease III
Syndrome
