黑色素瘤分子检测及其诊疗应用的专家共识(2025版)

Expert consensus on molecular testing and its application in the diagnosis and treatment of melanoma (2025 edition)

  • 摘要: 黑色素瘤的分子检测可以发现一些特定的基因突变,如BRAF、NRAS、CKIT等,以及一些反映肿瘤基因组稳定性及肿瘤新生抗原形成能力的标记物,如MSI、TMB/TNB、HRD/HED、HLA-Ⅰ、HLA-Ⅱ等,还包括ctDNA/cfDNA/CTC/外泌体分析及MRD检测等,以及反映肿瘤免疫微环境的TLS、TIL等分析。上述生物标记物的变化与黑色素瘤的发生、发展、诊断、治疗及预后密切相关,对于疾病的诊治策略制定具有重要的指导意义。如针对BRAF突变的黑色素瘤患者可以使用BRAF抑制剂进行治疗等,ctDNA/cfDNA、CTC及外泌体分析等液体活检技术侵入性明显低于组织活检并可重复进行,不仅可以用于诊断,还可以用于治疗选择和风险评估,提供了一种监测治疗反应和疾病复发、预测转移的新方法。基于目前的研究结果,由多学科专家针对黑色素瘤的分子检测及其诊疗应用进行讨论后制定下述支持证据强度高的10条共识,旨在提供如何运用分子检测指导黑色素瘤的诊疗决策和监测疗效及预后的参考,并推动黑色素瘤的个体化精准医疗发展。

     

    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.

     

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