迈向Spitzoid肿瘤的分子遗传学分类
Toward a Molecular-Genetic Classification of Spitzoid Neoplasms.
作者信息
Tetzlaff Michael T, Reuben Alexandre, Billings Steven D, Prieto Victor G, Curry Jonathan L
机构信息
Section of Dermatopathology, Department of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 85, Houston, TX, USA; Department of Translational and Molecular Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 85, Houston, TX, USA.
Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA.
出版信息
Clin Lab Med. 2017 Sep;37(3):431-448. doi: 10.1016/j.cll.2017.05.003.
The histopathologic spectrum of Spitzoid neoplasms includes Spitz nevi, atypical Spitz tumors, and Spitzoid melanomas. Advances in molecular genetics have evolved to the point that Spitzoid lesions can now be reasonably classified according to their distinctive molecular-genetic alterations: Spitzoid lesions with (1) 11p amplification and/or HRAS mutations; (2) isolated loss of 6q23 by fluorescence in situ hybridization (FISH); (3) homozygous deletion of 9p21 by FISH; (4) BAP1 loss and BRAFV600 E mutation; (5) translocations involving any of a number of different oncogenic kinase drivers, including ROS1, ALK, NTRK1, NTRK3, MET, BRAF, and RET; and (6) TERT promoter mutations.
Spitzoid肿瘤的组织病理学谱包括Spitz痣、非典型Spitz肿瘤和Spitzoid黑色素瘤。分子遗传学的进展已发展到现在可以根据其独特的分子遗传学改变对Spitzoid病变进行合理分类的程度：具有以下特征的Spitzoid病变：(1) 11p扩增和/或HRAS突变；(2) 通过荧光原位杂交（FISH）检测到6q23的孤立缺失；(3) 通过FISH检测到9p21的纯合缺失；(4) BAP1缺失和BRAFV600E突变；(5) 涉及多种不同致癌激酶驱动因子的易位，包括ROS1、ALK、NTRK1、NTRK3、MET、BRAF和RET；以及(6) TERT启动子突变。
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