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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… Click to show full 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.
Journal Title: Genes
Year Published: 2018
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