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Article

MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Dec 2016

Rekhi Bharat, Upadhyay Pawan, Ramteke Manoj P, Dutt Amit

Abstract excerpt

Recurrent mutations in the myogenic transcription factor MYOD1 and PIK3CA were initially described in a subset of embryonal rhabdomyosarcomas. Recently, two independent studies demonstrated presence of MYODI (L122R) mutations as the basis to re-classify a spindle cell rhabdomyosarcoma, along with a sclerosing rhabdomyosarcoma, distinct from an embryonal rhabdomyosarcoma. We analyzed a much larger cohort of 49...

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Identifiers

PMID: 27562493
DOI: 10.1038/modpathol.2016.144
PMCID: PMC5133269

Genes

MYOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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