皮肤黑色素瘤精准医学——综合综述

Precision medicine aims to tailor medical treatment to the individual characteristics of each patient, beginning with detailed diagnostic assessments. In cutaneous melanoma, precision medicine has made considerable progress, with some approaches already implemented in clinical practice and guidelines. For instance, testing for BRAF mutations to guide the use of targeted BRAF/MEK inhibitor therapy is an established standard of care.

Even melanoma with rarer genetic alterations, such as NTRK fusions or KIT mutations, can increasingly be treated with specific targeted therapies. These advancements have translated into significant improvements in overall survival, especially in patients with metastatic disease. Other innovative approaches, such as gene expression profiling (GEP) and the use of circulating tumour DNA (ctDNA) for monitoring treatment response, are already available.

However, they are not yet part of routine clinical care or broadly recommended in guidelines. Likewise, the use of tumour-infiltrating lymphocytes (TIL) remains limited to specialized centres, and tailor-made mRNA vaccines are still in the investigational phase but hold great promise for the future of melanoma therapy.

This review provides an overview of current and emerging approaches in precision therapy and diagnostics for melanoma, encompassing key areas such as molecular and genomic profiling, advanced imaging techniques, biomarker-based stratification and AI-driven technologies.