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

Shuanzeng Wei, Jianming Pei, Paul Belser, Teresa Lee, Jeffrey M. Farma, Arthur S. Patchefsky, Douglas B. Flieder, Elizabeth A. Montgomery

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article numbere23239
JournalGenes Chromosomes and Cancer
Volume63
Issue number4
DOIs
StatePublished - Mar 2024

Keywords

  • MIR143HG::PLAG1
  • myxoid leiomyosarcoma
  • next generation sequencing
  • translocation
  • Leiomyosarcoma/genetics
  • MicroRNAs/genetics
  • DNA-Binding Proteins/genetics
  • Humans
  • Middle Aged
  • Female
  • Rectal Neoplasms/genetics
  • Oncogene Proteins, Fusion/genetics

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