Abstract:
Molecular testing for malignant melanoma can identify specific gene mutations (e.g., BRAF, NRAS, CKIT) and biomarkers reflecting tumor genomic stability and neoantigen formation capacity (e.g., MSI, TMB/TNB, HRD/HED, and HLA-Ⅰ/Ⅱ). This also includes analyses of ctDNA/cfDNA, CTCs, exosomes, and MRD detection, as well as the evaluation of TLS and TILs that reflect the tumor immune microenvironment. Changes in these biomarkers are closely associated with the occurrence, development, diagnosis, treatment, and prognosis of malignant melanoma, thus providing critical guidance for formulating diagnostic and treatment strategies. For example, BRAF inhibitors can be used to treat patients with
BRAF-mutant malignant melanomas. Liquid biopsy techniques such as ctDNA/cfDNA, CTC, and exosome analyses are significantly less invasive than tissue biopsies and can be repeated. Additionally, these techniques are applicable not only for diagnosis, but also for treatment selection and risk assessment, offering a novel method to monitor treatment response, disease recurrence, and metastasis prediction. Based on the current research, a multidisciplinary panel of experts has developed the following 10 consensus statements with strong supporting evidence, aiming to provide references for molecular testing use to guide melanoma diagnosis and treatment decisions, monitor therapeutic efficacy and prognosis, and advance the development of individualized precision medicine for melanoma.