晚期肢端黑色素瘤的靶向治疗  

Targeted Therapy for Advanced Acral Melanoma

作　　者：李彩莉 斯璐[1] 毛丽丽[1] LI Caili;SI Lu;MAO Lili(Internal Medicine of Melanoma and Sarcoma,Key Laboratory of Carcinogenesis and Translational Research Ministry of Education,Peking University Cancer Hospital&Institute,Beijing 100142,China)

机构地区：[1]北京大学肿瘤医院暨北京市肿瘤防治研究所黑色素瘤暨肉瘤内科,恶性肿瘤发病机制及转化研究教育部重点实验室,北京100142

出　　处：《皮肤科学通报》2025年第1期44-48,共5页Dermatology Bulletin

摘　　要：黑色素瘤是一类高复发、高转移及预后差的高度恶性肿瘤。近年来,黑色素瘤的发病率呈持续上升的趋势。中国黑色素瘤患者以肢端和黏膜型为主,肢端黑色素瘤(AM)有着相对独特的临床病理特征及基因突变特点,预后更差、死亡风险更高。BRAF基因在黑色素瘤的发生发展中起重要作用,中国黑色素瘤患者中BRAF突变率为25.9%,最常见的突变位点是BRAF V600E,BRAF突变型黑色素瘤预后更差。靶向治疗在晚期皮肤黑色素瘤取得了进展,虽然AM携带BRAF或KIT突变患者可能受益于靶向治疗,但这些突变的频率相对较低,因此对于大多数缺乏常见驱动突变的AM患者缺乏针对性靶向治疗。AM不良预后也可归因于对其独特的分子景观和临床特征缺乏了解。本文旨在回顾AM相关激活通路,并总结新兴通路靶向治疗最新进展及各种个性化联合治疗,以期为后续AM治疗提供参考。Melanoma is a kind of highly malignant tumor with high recurrence,high metastasis and poor prognosis.In recent years,the incidence of melanoma has been on the rise.Melanoma in China is predominantly acral and mucosal melanoma.Acral melanoma(AM)shows unique clinicopathologic characteristics and genetic mutation,with a worse prognosis and a higher risk of death.BRAF gene plays an important role in the occurrence and development of melanoma.The mutation rate of BRAF in Chinese melanoma patients is 25.9%,the most common mutation site is BRAF V600E,and the prognosis of BRAF mutant melanoma is worse.While patients with AM carrying BRAF or KIT mutations may benefit from targeted therapy,the frequency of these mutations is relatively low,and therefore there is a lack of targeted therapy for most AM patients who lack common driver mutations.The poor prognosis of AM can also be attributed to a lack of understanding of its unique molecular landscape and clinical features.This paper aims to review the AM related activation pathways,and summarize the latest progress of targeted therapy of emerging pathways and various personalized combination therapies,in order to provide reference for subsequent AM therapy.

关 键 词：晚期 肢端黑色素瘤 靶向治疗 

分 类 号：R739.5[医药卫生—肿瘤] R751[医药卫生—临床医学]