Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Genes Chromosomes Cancer. 2018 Nov;57(11):598-603. doi: 10.1002/gcc.22649. Epub 2018 Aug 24.
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.
子宫内膜间质肉瘤包含一组异质性的子宫间质肿瘤，目前分为低级别和高级别亚型。低级别子宫内膜间质肉瘤形态温和；分子上，这些肿瘤常含有 JAZF1-SUZ12、JAZF1-PHF1 和 EPC1-PHF1 融合。相比之下，高级别子宫内膜间质肉瘤的特点是形态上未分化的肿瘤，具有高级别的核特征；这些肿瘤在遗传学上似乎也具有多样性，YWHAE-NUTM2 和 ZC3H7B-BCOR 是最常见的基因融合。在此，我们描述了两种新的子宫内膜间质肉瘤中的 EPC1 融合基因：EPC1-SUZ12 和 EPC1-BCOR。这两个肿瘤的临床病程都具有侵袭性。
