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

Genes Chromosomes Cancer. 2024 Apr;63(4):e23239. doi: 10.1002/gcc.23239.

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 (TRPS1::PLAG1, RAD51B::PLAG1, and TRIM13::PLAG1). In this report, we present a case of rectal MLS with a novel MIR143HG::PLAG1 fusion detected by RNA next-generation sequencing.

Keywords: MIR143HG::PLAG1; myxoid leiomyosarcoma; next generation sequencing; translocation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA-Binding Proteins* / genetics
  • Female
  • Humans
  • Leiomyosarcoma* / genetics
  • Leiomyosarcoma* / pathology
  • MicroRNAs / genetics
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics
  • Rectal Neoplasms* / genetics
  • Rectal Neoplasms* / pathology

Substances

  • PLAG1 protein, human
  • DNA-Binding Proteins
  • MicroRNAs
  • Oncogene Proteins, Fusion