Article
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.
Nature genetics - 1 Jun 2014
Kohsaka Shinji, Shukla Neerav, Ameur Nabahet, Ito Tatsuo, Ng Charlotte K Y, Wang Lu, Lim Diana, Marchetti Angela, Viale Agnes, Pirun Mono, Socci Nicholas D, Qin Li-Xuan, Sciot Raf, Bridge Julia, Singer Samuel, Meyers Paul, Wexler Leonard H, Barr Frederic G, Dogan Snjezana, Fletcher Jonathan A, Reis-Filho Jorge S, Ladanyi Marc
Abstract excerpt
Rhabdomyosarcoma, 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...
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