Novel EPC1 gene fusions in endometrial stromal sarcoma

Genes, Chromosomes & Cancer
Brendan C DicksonCheng-Han Lee

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.

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Citations

Oct 24, 2018·Genes, Chromosomes & Cancer·Brendan C Dickson, David Swanson
Mar 5, 2019·The American Journal of Surgical Pathology·Sarah ChiangCristina R Antonescu
Jul 18, 2020·Genes, Chromosomes & Cancer·Anjelica HodgsonGulisa Turashvili
Mar 20, 2019·Chinese Medical Journal·Tian YaoXiao-Ping Li
Apr 23, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Youran ZouSarah Chiang
Sep 11, 2020·International Journal of Surgical Pathology·Michela LibertiniRobin L Jones
Oct 21, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Amir Momeni-BoroujeniSarah Chiang
Oct 26, 2020·Genes, Chromosomes & Cancer·Francesca MicciIoannis Panagopoulos
Apr 4, 2021·Diagnostics·Iolia AkaevSiavash Rahimi
Aug 21, 2021·Journal of Zhejiang University. Science. B·Chunhui Li, Chunhong Wang

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