Integrated Molecular Profiling of Rhabdomyosarcoma Subtypes by Targeted RNAseq
Avenarius, M. R.; Patton, A.; Mohamed, N.; Pan, X.; Jones, D.
Show abstract
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. Here, we utilize a clinically validated, targeted RNA next-generation sequencing (RNAseq) panel to simultaneously detect MYOD1 transcript levels for lineage assignment, PAX3 and PAX7 translocations and mutations in MYOD1 and other RMS-related genes for definitive subtyping in a single assay. RNA-based detection of MYOD1 p.L122R and other mutations were orthogonally validated with digital droplet (dd)PCR or DNA-based NGS. Expanding the utility of clinical-grade RNAseq data beyond the detection of gene fusions is a cost-effective and time-efficient approach for more comprehensive screening of RMS. Impact statementComprehensive and rapid molecular diagnostics is a key driver in the selection and initiation of targeted therapies.
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