Genomic Landscape of Myoepithelial Carcinoma Tumors

Myoepithelial Carcinoma (MECA) is an ultra-rare soft tissue cancer with a rare EWSR1::KLF15 fusion reported in some cases. However, fusion positive MECA has been classified as a carcinoma, despite sharing qualities with sarcomas in terms of fusion protein rearrangement. An exploration of MECA in the context of a sarcoma versus an adenocarcinoma could be crucial to the understanding of MECA with respect to other cancers. Beyond gene fusions, MECA can also be difficult to characterize, but functional genomics could reveal distinctions.

We performed next generation DNA exome and RNA deep sequencing for a 27 patient cohort for this ultra-rare cancer.

Our Principal Component Analysis that categorized MECA tumors among other sarcomas vs. salivary carcinomas, with closest relatedness to salivary Adenoid Cystic Carcinoma. Both fusion positive and fusion negative MECA over-express IGF1R.

Despite sharing a chromosomal translocation partner (the EWSR1 gene) with sarcomas, MECA are most related to other salivary carcinomas. Further exploration of IGF1R as a therapeutic target in MECA is warranted. We also make available the 27 patients' next generation DNA exome and RNA sequencing through the EGA Repository.