Habeeb Omar, Rubin Brian P
Department of Pathology, Langone Medical Center, New York University, 160 East 34th Street, New York, NY 10016, USA.
Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic and Lerner Research Institute, Department of Pathology, 9500 Euclid Avenue L25, Cleveland, OH 44195, USA.
Surg Pathol Clin. 2019 Mar;12(1):35-49. doi: 10.1016/j.path.2018.10.002. Epub 2018 Dec 4.
In this review, we provide an update of the recently discovered, diagnostically significant genetic aberrations harbored by a subset of vascular neoplasms. From benign (epithelioid hemangioma, spindle cell hemangioma), to intermediate (pseudomyogenic hemangioendothelioma), to malignant (epithelioid hemangioendothelioma, angiosarcoma), each neoplasm features a mutation or gene fusion that facilitates its diagnosis by immunohistochemistry and/or molecular ancillary testing. The identification of these genetic anomalies not only assists with the objective classification and diagnosis of these neoplasms, but also serves to help recognize potential therapeutic targets.
在本综述中,我们更新了最近发现的、血管肿瘤亚群中具有诊断意义的基因畸变情况。从良性肿瘤(上皮样血管瘤、梭形细胞血管瘤)到中间型肿瘤(假肌源性血管内皮瘤),再到恶性肿瘤(上皮样血管内皮瘤、血管肉瘤),每种肿瘤都有一个突变或基因融合,可通过免疫组织化学和/或分子辅助检测来促进其诊断。这些基因异常的鉴定不仅有助于对这些肿瘤进行客观分类和诊断,还有助于识别潜在的治疗靶点。