Ontology type: schema:ScholarlyArticle Open Access: True
2014-06
AUTHORSShinji Kohsaka, Neerav Shukla, Nabahet Ameur, Tatsuo Ito, Charlotte K Y Ng, Lu Wang, Diana Lim, Angela Marchetti, Agnes Viale, Mono Pirun, Nicholas D Socci, Li-Xuan Qin, Raf Sciot, Julia Bridge, Samuel Singer, Paul Meyers, Leonard H Wexler, Frederic G Barr, Snjezana Dogan, Jonathan A Fletcher, Jorge S Reis-Filho, Marc Ladanyi
ABSTRACTRhabdomyosarcoma, a cancer of skeletal muscle lineage, is the most common soft-tissue sarcoma in children. Major subtypes of rhabdomyosarcoma include alveolar (ARMS) and embryonal (ERMS) tumors. Whereas ARMS tumors typically contain translocations generating PAX3-FOXO1 or PAX7-FOXO1 fusions that block terminal myogenic differentiation, no functionally comparable genetic event has been found in ERMS tumors. Here we report the discovery, through whole-exome sequencing, of a recurrent somatic mutation encoding p.Leu122Arg in the myogenic transcription factor MYOD1 in a distinct subset of ERMS tumors with poor outcomes that also often contain mutations altering PI3K-AKT pathway components. Previous mutagenesis studies had shown that MYOD1 with a p.Leu122Arg substitution can block wild-type MYOD1 function and bind to MYC consensus sequences, suggesting a possible switch from differentiation to proliferation. Our functional data now confirm this prediction. Thus, MYOD1 p.Leu122Arg defines a subset of rhabdomyosarcomas eligible for high-risk protocols and the development of targeted therapeutics. More... »
PAGES595-600
http://scigraph.springernature.com/pub.10.1038/ng.2969
DOIhttp://dx.doi.org/10.1038/ng.2969
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/24793135
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