Article

Integrated Molecular Profiling of Rhabdomyosarcoma Subtypes by Targeted RNAseq

2024-10-14

Abstract excerpt

All subtypes of rhabdomyosarcoma (RMS) show skeletal muscle differentiation but each has different oncogenic mechanisms including recurrent PAX3 and PAX7 gene fusions (alveolar), a hotspot mutation in MYOD1 (spindle/sclerosing) and mutations in other oncogenes and tumor suppressors (embryonal, pleomorphic). This range of genomic findings typically requires several different DNA and RNA-based diagnostic assays....

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Literature Corpus work: 0f6b878b-bad8-5019-93fc-ef1f52a34c3d
DOI: 10.1101/2024.10.11.24315314

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