The molecular landscape of cutaneous melanoma is complex and heterogeneous, and a deeper understanding of the genesis and progression of the tumor driven by genetic alterations is essential for the development of effective diagnostic and therapeutic strategies. Molecular diagnostics and the use of biomarkers are increasingly playing a role in treatment decisions. However, further research is urgently needed to elucidate the relationships between complex genetic alterations and the effectiveness of target therapies (although BRAF mutation is still the only targeted genetic alteration). Further research is required to exploit other targetable genetic alterations such as NRAS, KIT or rare mutations. Treatment guidelines for cutaneous melanoma are continually evolving based on data from recent and ongoing clinical trials. These advancements reflect changes mainly in the optimal timing of systemic therapy and the choice of combination therapies increasingly tailored to molecular profiles of individual tumors. Mono- or combination immunotherapies demonstrated unprecedented success of melanoma treatment; still, there is room for improvement: though several factors of primary or acquired resistance are known, they are not part of patient management as biomarkers. The novel developments of cancer vaccines to treat melanoma (melanoma-marker-based or personalized neoantigen-based) are encouraging; introduction of them into clinical practice without proper biomarkers would be the same mistake made in the case of first-generation immunotherapies.
皮肤黑色素瘤的分子图谱复杂且具有异质性，深入理解由遗传改变驱动的肿瘤发生与发展机制，对于制定有效的诊断与治疗策略至关重要。分子诊断和生物标志物的应用在治疗决策中日益重要。然而，亟需进一步研究以阐明复杂遗传改变与靶向治疗有效性之间的关系（尽管BRAF突变仍是目前唯一可靶向的遗传改变）。此外，还需深入研究其他可靶向的遗传改变，如NRAS、KIT或罕见突变。皮肤黑色素瘤的治疗指南基于近期及正在进行的临床试验数据不断更新，这些进展主要体现在系统治疗的最佳时机选择，以及越来越多地根据个体肿瘤分子特征制定联合治疗方案。单药或联合免疫疗法在黑色素瘤治疗中取得了前所未有的成功，但仍有改进空间：尽管已知多种原发性或获得性耐药因素，但这些因素尚未作为生物标志物纳入患者管理体系。基于黑色素瘤标志物或个性化新抗原的癌症疫苗研发进展令人鼓舞，但若在缺乏合适生物标志物的情况下将其引入临床实践，将重蹈第一代免疫疗法的覆辙。
肿瘤(癌症)患者之家