title: 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.
authors.affiliation: Department of Pathology, Children's National Medical Center, Washington, District of Columbia 20010, USA.
authors.forename: Leslie
authors.initials: L
authors.lastname: Doros
authors.forename: Jiandong
authors.initials: J
authors.lastname: Yang
authors.forename: Louis
authors.initials: L
authors.lastname: Dehner
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Rossi
authors.forename: Kerry
authors.initials: K
authors.lastname: Skiver
authors.forename: Jason A
authors.initials: JA
authors.lastname: Jarzembowski
authors.forename: Yoav
authors.initials: Y
authors.lastname: Messinger
authors.forename: Kris Ann
authors.initials: KA
authors.lastname: Schultz
authors.forename: Gretchen
authors.initials: G
authors.lastname: Williams
authors.forename: Nicolas
authors.initials: N
authors.lastname: André
authors.forename: D Ashley
authors.initials: DA
authors.lastname: Hill
mesh_terms: D002648:Child; D002675:Child, Preschool; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D018202:Pulmonary Blastoma / Q000235:genetics; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics*; D043244:Ribonuclease III / Q000235:genetics*; D013577:Syndrome
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases