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Article

Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.

Cold Spring Harbor molecular case studies - 1 Jan 2022

Choo Florence, Odintsov Igor, Nusser Kevin, Nicholson Katelyn S, Davis Lara, Corless Christopher L, Stork Linda, Somwar Romel, Ladanyi Marc, Davis Jessica L, Davare Monika A

Abstract excerpt

Spindle cell/sclerosing rhabdomyosarcoma (ssRMS) is a rare subtype of rhabdomyosarcoma, commonly harboring a gain-of-function L122R mutation in the muscle-specific master transcription factor MYOD1. MYOD1-mutated ssRMS is almost invariably fatal, and development of novel therapeutic approaches based on the biology of the disease is urgently needed. MYOD1 L122R affects the DNA-binding domain and is believed to...

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PMID: 35012940
DOI: 10.1101/mcs.a006140
PMCID: PMC8744497

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