Novel EPC1 gene fusions in endometrial stromal sarcoma

Genes Chromosomes Cancer. 2018 Nov;57(11):598-603. doi: 10.1002/gcc.22649. Epub 2018 Aug 24.

Abstract

Endometrial stromal sarcoma encompasses a heterogeneous group of uterine mesenchymal neoplasms, which are currently divided into low-grade and high-grade subtypes. Low-grade endometrial stromal sarcoma is morphologically bland; molecularly, these tumors frequently contain JAZF1-SUZ12, JAZF1-PHF1, and EPC1-PHF1 fusions. In contrast, high-grade endometrial stromal sarcoma is characterized by morphologically undifferentiated neoplasms with high-grade nuclear features; these tumors likewise appear to be genetically diverse with YWHAE-NUTM2 and ZC3H7B-BCOR representing the most frequent gene fusions. Herein, we describe two novel EPC1 fusion genes in endometrial stromal sarcoma: EPC1-SUZ12 and EPC1-BCOR. Both tumors were characterized be an aggressive clinical course.

Keywords: BCOR; EPC1; SUZ12; endometrial stromal sarcoma.

Publication types

  • Case Reports

MeSH terms

  • Chromosomal Proteins, Non-Histone / chemistry
  • Chromosomal Proteins, Non-Histone / genetics*
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / pathology
  • Female
  • Humans
  • Middle Aged
  • Oncogene Proteins, Fusion / chemistry
  • Oncogene Proteins, Fusion / genetics*
  • Repressor Proteins / chemistry
  • Repressor Proteins / genetics*
  • Sarcoma, Endometrial Stromal / genetics*
  • Sarcoma, Endometrial Stromal / pathology

Substances

  • Chromosomal Proteins, Non-Histone
  • EPC1 protein, human
  • Oncogene Proteins, Fusion
  • Repressor Proteins