子宫内膜间质肉瘤中的新型 EPC1 基因融合。
Novel EPC1 gene fusions in endometrial stromal sarcoma.
机构信息
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
出版信息
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。
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