Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma.

ABSTRACT

Myxoid leiomyosarcoma (MLS) is a rare but well-documented tumor that often portends a poor prognosis compared to the conventional leiomyosarcoma. This rare sarcoma has been reported in the uterus, external female genitalia, soft tissue, and other locations. However, a definite rectal MLS has not been reported. Recently five cases of MLS were reported to harbor PLAG1 fusions (TRPS1PLAG1, RAD51BPLAG1, and TRIM13PLAG1). In this report, we present a case of rectal MLS with a novel MIR143HGPLAG1 fusion detected by RNA next-generation sequencing.