Defining an embryonal rhabdomyosarcoma endotype

作者：Cora A. Ricker, Kenneth A. Crawford, Kevin Matlock, Melvin Lathara, Bernard Séguin, Erin R. Rudzinski, Noah Berlow, Charles Keller · 发表于：Molecular Case Studies · 年份：2020 · DOI：10.1101/mcs.a005066 · 被引用次数：10 · 研究领域：Sarcoma Diagnosis and Treatment、Cancer Genomics and Diagnostics、Tumors and Oncological Cases

Rhabdomyosarcoma (RMS) is the most common childhood soft-tissue sarcoma. The largest subtype of RMS is embryonal rhabdomyosarcoma (ERMS) and accounts for 53% of all RMS. ERMS typically occurs in the head and neck region, bladder, or reproductive organs and portends a promising prognosis when localized; however, when metastatic the 5-yr overall survival rate is ∼43%. The genomic landscape of ERMS demonstrates a range of putative driver mutations, and thus the recognition of the pathological mechanisms driving tumor maintenance should be critical for identifying effective targeted treatments at the level of the individual patients. Here, we report genomic, phenotypic, and bioinformatic analyses for a case of a 3-yr-old male who presented with bladder ERMS. Additionally, we use an unsupervised agglomerative clustering analysis of RNA and whole-exome sequencing data across ERMS and undifferentiated pleomorphic sarcoma (UPS) tumor samples to determine several major endotypes inferring potential targeted treatments for a spectrum of pediatric ERMS patient cases.