Reviewing the somatic genetics of melanoma: from current to future analytical approaches
Reviewing the somatic genetics of melanoma: from current to future analytical approaches
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DOI：
10.1111/j.1755-148x.2012.00975.x
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发表时间：
2012-03-01
影响因子：
4.3
通讯作者：
Hayward, Nicholas K.
中科院分区：
文献类型：
--
作者：
Dutton-Regester, Ken;Hayward, Nicholas K.
转移性黑色素瘤传统上很难治疗，尽管基于分子的靶向治疗已显示出有希望的结果，但它们尚未显示出总体生存率的持续改善。因此，确定转移性黑色素瘤病因学背后的关键突变事件无疑将导致现有治疗方法的改进和新治疗策略的开发。最近，利用新一代测序 (NGS) 技术在了解黑色素瘤基因组的复杂性方面取得了重大进展。然而，识别那些驱动肿瘤发生的突变对研究人员来说仍然是一个挑战，部分原因是与其他癌症相比，突变率很高。本文将回顾通过各种方法在黑色素瘤中识别的突变目录，包括使用无偏倚的外显子组和全基因组 NGS 平台，并讨论识别驱动突变的补充策略。通过更好地了解这些突变事件所带来的个性化医疗的希望应该会推动该领域的活动增加和快速发展。
Metastatic melanoma has traditionally been difficult to treat, and although molecularly based targeted therapies have shown promising results, they have yet to show consistent improvements in overall survival rates. Thus, identifying the key mutation events underlying the etiology of metastatic melanoma will no doubt lead to the improvement of existing therapeutic approaches and the development of new treatment strategies. Significant advances toward understanding the complexity of the melanoma genome have recently been achieved using next-generation sequencing (NGS) technologies. However, identifying those mutations driving tumorigenesis will continue to be a challenge for researchers, in part because of the high rates of mutation compared to other cancers. This article will review the catalog of mutations identified in melanoma through a variety of approaches, including the use of unbiased exome and whole-genome NGS platforms, as well discuss complementary strategies for identifying driver mutations. The promise of personalized medicine afforded by better understanding these mutation events should provide impetus for increased activity and rapid advances in this field.