Department of Dermatology, University Hospital, West German Cancer Center, University Duisburg-Essen and the German Cancer Consortium (DKTK), Hufelandstr. 55, Essen, 45147, Germany.
Dermatopathologie bei Mainz, Bahnhofstr. 2b, Nieder-Olm, 55268, Germany.
Am J Clin Dermatol. 2017 Jun;18(3):303-310. doi: 10.1007/s40257-017-0260-6.
Next-generation sequencing (NGS) has provided significant insights into the pathogenesis of human malignancies. In advanced melanoma, two therapeutic avenues have appeared and have immediately become the standard of care, i.e. targeted therapy with small molecule inhibitors, and immune checkpoint blockade. Sequencing has always been essential for determining which patients may benefit from targeted therapies (e.g. the presence of BRAF mutations). While sequencing does not currently help recognize which patients might benefit from immune checkpoint blockade, recent data suggest that this may change. Multiple studies have identified tumor mutation profiles associated with patients benefiting from immune checkpoint blockade therapy. These findings suggest comprehensive tumor sequencing may become a critical step for predicting therapy responses to all systemic therapies. In this review, the current and potential future impact of NGS on treatment decisions in advanced melanoma will be summarized and discussed.
下一代测序(NGS)为人类恶性肿瘤的发病机制提供了重要的见解。在晚期黑色素瘤中,出现了两种治疗途径,并且立即成为标准治疗方法,即小分子抑制剂的靶向治疗和免疫检查点阻断。测序一直是确定哪些患者可能从靶向治疗中获益的关键(例如 BRAF 突变的存在)。虽然测序目前无助于识别哪些患者可能从免疫检查点阻断中获益,但最近的数据表明情况可能会发生变化。多项研究已经确定了与免疫检查点阻断治疗获益相关的肿瘤突变特征。这些发现表明,全面的肿瘤测序可能成为预测所有全身治疗药物反应的关键步骤。在这篇综述中,将总结和讨论 NGS 对晚期黑色素瘤治疗决策的当前和潜在未来影响。