Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Clin Cancer Res. 2012 Mar 1;18(5):1195-200. doi: 10.1158/1078-0432.CCR-11-2317. Epub 2012 Jan 24.
Melanoma is one of the most aggressive forms of skin cancer. The management of melanoma is evolving rapidly due to an improved understanding of the molecular heterogeneity of this disease and the development of effective, personalized, targeted therapy strategies. Although previous classification systems were based predominantly on clinical and histologic criteria, there is now a strong rationale for adding molecular markers to the diagnostic evaluation of these tumors. Research has shown that the types and prevalence of genetic alterations vary among melanoma subtypes. Thus, rational molecular testing should be based on an understanding of the events that are likely to occur in a given tumor and the clinical implications of test results. This review summarizes the existing data that support the rationale for molecular testing in clinically defined melanoma subtypes. Emerging challenges and controversies regarding the use of various molecular testing platforms, and their implications for clinical testing, are also discussed.
黑色素瘤是最具侵袭性的皮肤癌之一。由于对这种疾病的分子异质性有了更深入的了解，以及有效的、个性化的靶向治疗策略的发展，黑色素瘤的治疗正在迅速发展。虽然以前的分类系统主要基于临床和组织学标准，但现在有充分的理由将分子标志物添加到这些肿瘤的诊断评估中。研究表明，黑色素瘤亚型之间的遗传改变类型和发生率存在差异。因此，合理的分子检测应该基于对特定肿瘤中可能发生的事件的理解以及检测结果的临床意义。这篇综述总结了支持在临床定义的黑色素瘤亚型中进行分子检测的现有数据。还讨论了关于各种分子检测平台的使用的新兴挑战和争议，以及它们对临床检测的影响。
