Rommel Birgit, Holzmann Carsten, Bullerdiek Jörn
a Center for Human Genetics , University of Bremen , Bremen , Germany.
b Institute of Medical Genetics , University Rostock Medical Center , Rostock , Germany.
Expert Rev Anticancer Ther. 2016 Nov;16(11):1155-1166. doi: 10.1080/14737140.2016.1233817. Epub 2016 Sep 29.
Sarcomas are rare uterine tumors with leiomyosarcomas and endometrial stromal sarcomas constituting the predominant entities often making their first appearance in young and middle-aged women. By histology combined with immunostaining alone some of these tumors can offer diagnostic challenges e.g. for the differential diagnosis between leiomyosarcomas and smooth muscle tumors of uncertain malignant potential (STUMP). Areas covered: Recent advances in the genetic classification and subclassification, respectively, have shown that genetic markers can offer a valuable adjunct to conventional diagnostic tools. Herein, we will review these recent data from the literature also referring to genetic alterations found in STUMP, endometrial stromal nodules, and leiomyomas including their variants. Expert commentary: For the future, we consider genetic classification as a necessary step in the clinical management of these tumors which will help not only to improve the diagnosis but also the therapy of these malignancies often associated with a worse prognosis.
肉瘤是罕见的子宫肿瘤,其中平滑肌肉瘤和子宫内膜间质肉瘤是主要类型,常见于中青年女性。仅通过组织学检查结合免疫染色,部分此类肿瘤的诊断具有挑战性,例如在平滑肌肉瘤与恶性潜能不确定的平滑肌肿瘤(STUMP)之间进行鉴别诊断时。涵盖领域:近期在基因分类和亚分类方面的进展表明,基因标志物可为传统诊断工具提供有价值的辅助。在此,我们将回顾文献中的这些最新数据,同时提及STUMP、子宫内膜间质结节和平滑肌瘤(包括其变异型)中发现的基因改变。专家评论:未来,我们认为基因分类是这些肿瘤临床管理中的必要步骤,这不仅有助于改善诊断,还能改善这些通常预后较差的恶性肿瘤的治疗。