Characterization of Clinical Cases of Malignant PEComa via Comprehensive Genomic Profiling of DNA and RNA

International Journal of Cancer Research and Treatment

Fecha de publicación: September 23, 2020

DOI: https://doi.org/10.1159/000510241

Autores: Akumalla S., Madison R., Lin D.I., Schrock A.B., Yakirevich E., Rosenzweig M., Balar A.V., Frampton G.M., Edgerly C., Erlich R.L., Miller V.A., Ganesan S., Ross J.S., Ali S.M.

Background: Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal soft tissue neoplasm often linked to mTOR pathway activation via TSC2 mutation. We analyzed a series of 31 consecutive metastatic PEComa (mPEComa) cases using a combined DNA/RNA hybrid capture-based comprehensive genomic profiling (CGP) assay to assess the genomic landscape of mPEComa.