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  • Title: Novel EPC1 gene fusions in endometrial stromal sarcoma.
    Author: Dickson BC, Lum A, Swanson D, Bernardini MQ, Colgan TJ, Shaw PA, Yip S, Lee CH.
    Journal: Genes Chromosomes Cancer; 2018 Nov; 57(11):598-603. PubMed ID: 30144186.
    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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