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Author

Lea F. Surrey

2 papers indexed here

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Sep 2026

Abstract C018: 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 can be divided into two major subtypes: fusion-positive (FP) RMS, which most commonly involves the PAX3::FOXO1 or PAX7::FOXO1 fusion gene, and fusion-negative (FN) RMS, which lacks these gene fusions. Previous DNA methylation studies have sho...

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

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