Szabó Imre Lőrinc, Emri Gabriella, Ladányi Andrea, Tímár József
Department of Dermatology, MTA Centre of Excellence, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
HUN-REN-UD Allergology Research Group, University of Debrecen, 4032 Debrecen, Hungary.
Cancers (Basel). 2025 Apr 24;17(9):1422. doi: 10.3390/cancers17091422.
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格局复杂且异质性强,深入了解由基因改变驱动的肿瘤发生和发展过程对于制定有效的诊断和治疗策略至关重要。分子诊断和生物标志物的应用在治疗决策中发挥着越来越重要的作用。然而,迫切需要进一步研究以阐明复杂基因改变与靶向治疗有效性之间的关系(尽管BRAF突变仍是唯一可靶向的基因改变)。还需要进一步研究以探索其他可靶向的基因改变,如NRAS、KIT或罕见突变。皮肤黑色素瘤的治疗指南正根据近期及正在进行的临床试验数据不断演变。这些进展主要反映在全身治疗的最佳时机以及越来越针对个体肿瘤分子特征的联合治疗选择上的变化。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;不过,仍有改进空间:尽管已知一些原发性或获得性耐药因素,但它们尚未作为生物标志物纳入患者管理。用于治疗黑色素瘤的癌症疫苗(基于黑色素瘤标志物或个性化新抗原)的新进展令人鼓舞;在没有适当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。