Author

Lea F. Surrey

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Open access Oct 2026

DNA methylation profiling reveals novel rhabdomyosarcoma subsets with distinct histologic, genetic and clinical properties

Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma, and is commonly divided into fusion-positive (FP) (predominantly PAX3::FOXO1 or PAX7::FOXO1) and fusion-negative (FN) subtypes. Based on our earlier finding of different DNA methylation patterns in the FP and FN subtypes, we hypothesized that ther...

W. Sun, J. Lopez-Nava, J. Shern et al. · medRxiv · 0 citations

Sep 2026

Abstract C018: DNA methylation profiling reveals novel rhabdomyosarcoma subsets with distinct histologic, genetic and clinical properties

DNA methylation profiling provides a robust approach for subcategorizing the RMS family of soft tissue tumors into more homogeneous subsets, and confirms the presence of two major subsets (FN1 and FN2) in FN RMS as well as PAX3::FOXO1- and PAX7::FOXO1-enriched subsets in FP RMS.

Wen-Yue Sun, J. Lopez-Nava, J. Shern et al. · Cancer Research · 0 citations

Review Open access Aug 2026

Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working Group.

This review summarizes known causative genes, current testing methodologies, variant interpretation and reporting practices, major genomic alteration classes and recurrent hotspot variants, and highlights key knowledge gaps from clinical and laboratory perspectives.

Avinash V. Dharmadhikari, Candace T. Myers, Katherine A. King et al. · Genetics in Medicine · 0 citations