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Article

Clinicopathological Analysis of a European Cohort of MYOD1 Mutant Rhabdomyosarcomas in Children and Young Adults.

Pediatric blood & cancer - 1 Jan 2025

Chisholm Julia C, Selfe Joanna L, Alaggio Rita, Cheesman Edmund, Zin Angelica, Tombolan Lucia, Parafioriti Antonina, Milano Giuseppe Maria, Adams Madeleine, Popov Sergey, Česen Maja, Tafjord Svetlana, Jenney Meriel, Proszek Paula Z, Schlecht Helene, Carlo Daniela Di, Shipley Janet, Kelsey Anna

Abstract excerpt

BACKGROUND: Patients with PAX3/7-FOXO1 fusion-negative rhabdomyosarcomas (fnRMS) harbouring the rare L122R MYOD1 mutation have significantly poorer prognosis than other fnRMS. We undertook a detailed clinicopathological evaluation of a cohort of patients with MYOD1 mutated fnRMS in order to improve risk stratification and treatment options. PROCEDURE: Histological, mutational and clinical data from a cohort of...

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PMID: 39511703
DOI: 10.1002/pbc.31428

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