Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children’s Oncology Group

Abbou S, Klega K, Tsuji J, Tanhaemami M, Hall D, Barkauskas DA, Krailo MD, Cibulskis C, Nag A, Thorner AR, Pollock S, Imamovic-Tuco A, Shern JF, DuBois SG, Venkatramani R, Hawkins DS, Crompton BD. Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children’s Oncology Group. J Clin Oncol. 2023 May 1;41(13):2382-2393. doi: 10.1200/JCO.22.00409. Epub 2023 Feb 1. PubMed PMID: 36724417; PubMed Central PMCID: PMC10150913.

Novel biomarkers are needed to differentiate outcomes in intermediate-risk rhabdomyosarcoma (IR RMS). We sought to evaluate strategies for identifying circulating tumor DNA (ctDNA) in IR RMS and to determine whether ctDNA detection before therapy is associated with outcome. Pretreatment serum and tumor samples were available from 124 patients with newly diagnosed IR RMS from the Children’s Oncology Group biorepository, including 75 patients with fusion-negative rhabdomyosarcoma (FN-RMS) and 49 with fusion-positive rhabdomyosarcoma (FP-RMS) disease. We used ultralow passage whole-genome sequencing to detect copy number alterations and a new custom sequencing assay, Rhabdo-Seq, to detect rearrangements and single-nucleotide variants.