在一例类似卵巢性索肿瘤的子宫肿瘤（UTROSCT）中检测到一种体细胞基因融合。
Detection of a somatic gene fusion in a uterine tumor resembling ovarian sex cord tumor (UTROSCT).
作者信息
Grither Whitney R, Dickson Brendan C, Fuh Katherine C, Hagemann Ian S
机构信息
Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, USA.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
出版信息
Gynecol Oncol Rep. 2020 Sep 6;34:100636. doi: 10.1016/j.gore.2020.100636. eCollection 2020 Nov.
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare uterine neoplasm of uncertain malignant potential. We present the case of a 69-year-old woman who underwent hysterectomy for postmenopausal bleeding and was found to have a myometrial UTROSCT. RNA-sequencing identified a somatic fusion, supporting the diagnosis. Next-generation sequencing is increasingly being adopted in diagnostic pathology laboratories. This report highlights the value of RNA-sequencing in identifying rare fusion events to support pathologic diagnoses.
子宫肿瘤样卵巢性索肿瘤（UTROSCT）是一种恶性潜能不确定的罕见子宫肿瘤。我们报告一例69岁女性，因绝经后出血接受子宫切除术，术中发现子宫肌层有UTROSCT。RNA测序鉴定出一种体细胞融合，支持该诊断。诊断病理实验室越来越多地采用下一代测序技术。本报告强调了RNA测序在识别罕见融合事件以支持病理诊断方面的价值。
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