融合基因
肉瘤
生物
子宫内膜间质肉瘤
子宫肉瘤
成纤维细胞生长因子受体1
病理
癌症研究
基因
医学
成纤维细胞生长因子
遗传学
受体
作者
Roman Zyla,Emily A. Goebel,J.W. Jang,Gulisa Turashvili
出处
期刊:International Journal of Gynecological Pathology
[Ovid Technologies (Wolters Kluwer)]
日期:2021-12-01
卷期号:41 (6): 588-592
被引量:1
标识
DOI:10.1097/pgp.0000000000000846
摘要
With the growing availability of RNA sequencing technology in the pathology laboratory, new gene fusion-associated malignancies are increasingly being characterized. In this article, we describe the second ever reported case of a uterine sarcoma harboring a FGFR1-TACC1 gene fusion. The patient, a 53-yr-old perimenopausal woman, was found to have a 6 cm mass spanning the lower uterine segment and endocervix. Histologically, this was a spindle cell neoplasm with coagulative necrosis, moderate cytologic atypia, and increased mitotic activity. By immunohistochemistry, the neoplastic cells coexpressed CD34 and S100, and lacked smooth muscle marker expression. RNA sequencing revealed the presence of a FGFR1-TACC1 gene fusion. This report provides further evidence to suggest that FGFR1-TACC1 may be a recurrent fusion in a subset of uterine sarcomas. RNA sequencing using a panel that includes FGFR-TACC family fusions should be considered for uterine sarcomas that do not fit conventional diagnostic criteria, particularly as tumors with these fusions may be amenable to targeted therapy.
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