<p>Rhabdomyosacoma (RMS) is a common pediatric soft tissue tumor that is associated with the skeletal muscle lineage. RMS comprises two major subtypes: fusion-positive (FP, most commonly <a href="https://www.ncbi.nlm.nih.gov/gene/?term=5077">PAX3</a>- <a href="https://www.ncbi.nlm.nih.gov/gene/?term=2308">FOXO1</a> or <a href="https://www.ncbi.nlm.nih.gov/gene/?term=5081">PAX7</a>-FOXO1) and fusion-negative (FN, frequently associated with mutations in RAS pathway). Our previous study demonstrated that FP and FN tumors exhibit distinct DNA methylation profiles. In this study, further investigation of genome-wide DNA methylation profiles in RMS tumors revealed DNA methylation differences between AX3-FOXO1 and PAX7-FOXO1 subsets in FP RMS, and between RAS mutation and RAS wild-type subsets in FN RMS. These data provide new insight into the relationship of DNA methylation with mutational changes and transcriptional organization in FP and FN RMS.</p>

DNA Methylation in Rhabdomyosarcoma

Relationship of DNA methylation to mutational changes and transcriptional organization in fusion‐positive and fusion‐negative rhabdomyosarcoma