Novel EPC1 gene fusions in endometrial stromal sarcoma. Issue 11 (24th August 2018)

• Record Type: Journal Article
• Authors: Dickson, Brendan C.; Lum, Amy; Swanson, David; Bernardini, Marcus Q.; Colgan, Terrence J.; Shaw, Patricia A.; Yip, Stephen; Lee, Cheng‐Han
• Is Part Of: Genes, chromosomes & cancer. Volume 57:Issue 11(2018)
• Page Start: 598
• Page End: 603
• Publication Date: 2018-08-24
• Subjects: BCOR -- endometrial stromal sarcoma -- EPC1 -- SUZ12; Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22649
• Languages: English
• ISSNs: 1045-2257

Abstract

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.