Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium

Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J. Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium. J Clin Oncol. 2021 Sep 10;39(26):2859-2871. doi: 10.1200/JCO.20.03060. Epub 2021 Jun 24. PubMed PMID: 34166060; PubMed Central PMCID: PMC8425837.

Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. Despite aggressive therapy, the 5-year survival rate for patients with metastatic or recurrent disease remains poor, and beyond PAX-FOXO1 fusion status, no genomic markers are available for risk stratification. We present an international consortium study designed to determine the incidence of driver mutations and their association with clinical outcome. Tumor samples collected from patients enrolled on Children’s Oncology Group trials (1998-2017) and UK patients enrolled on malignant mesenchymal tumor and RMS2005 (1995-2016) trials were subjected to custom-capture sequencing. Mutations, indels, gene deletions, and amplifications were identified, and survival analysis was performed.