Reddy Bobby Y, Miller David M, Tsao Hensin
Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Cancer. 2017 Jun 1;123(S11):2104-2117. doi: 10.1002/cncr.30593.
Melanoma has one of the highest somatic mutational burdens among solid malignancies. Although the rapid progress in genomic research has contributed immensely to our understanding of the pathogenesis of melanoma, the clinical significance of the vast array of genomic alterations discovered by next-generation sequencing is far from being fully characterized. Most mutations prevalent in melanoma are simply neutral "passengers," which accompany functionally significant "drivers" under transforming conditions. The delineation of driver mutations from passenger mutations is critical to the development of targeted therapies. Novel advances in genomic data analysis have aided in distinguishing true driver mutations involved in tumor progression. Here, the authors review the current literature on important somatic driver mutations in melanoma, along with the implications for treatment. Cancer 2017;123:2104-17. © 2017 American Cancer Society.
黑色素瘤是实体恶性肿瘤中体细胞突变负担最高的肿瘤之一。尽管基因组研究的迅速进展极大地促进了我们对黑色素瘤发病机制的理解,但通过下一代测序发现的大量基因组改变的临床意义远未得到充分阐明。黑色素瘤中普遍存在的大多数突变仅仅是中性的“乘客”突变,在转化条件下伴随有功能意义的“驱动”突变。区分驱动突变和乘客突变对于靶向治疗的发展至关重要。基因组数据分析的新进展有助于鉴别参与肿瘤进展的真正驱动突变。在此,作者回顾了关于黑色素瘤重要体细胞驱动突变的当前文献以及对治疗的影响。《癌症》2017年;123:2104 - 17。© 2017美国癌症协会