目的：旨在探讨酪氨酸激酶抑制剂伊马替尼在KIT突变/扩增的晚期黑色素瘤患者中的疗效及安全性。方法： 回顾性分析2009年11月至2015年9月北京大学肿瘤医院肾病黑色素瘤科78例KIT突变/扩增的晚期黑色素瘤患者的临床资料，患者接受伊马替尼口服（400 mg/日）治疗，直至疾病进展或发生不能耐受的不良反应。结果：78例患者可评价疗效。全组患者客观缓解率22.4%，疾病控制率60.6%。17例部分缓解患者中，有11例为11 或 13号外显子突变。全组患者中位无疾病进展时间3.9个月(95%CI：2.1~5.8个月)，中位总生存时间13.2个月(95% CI：10.1~16.3个月)；1年生存率57%,2年生存率36%，3年生存率19%。最常见的不良反应包括水肿、乏力、食欲减退、皮疹、粒细胞下降（发生率均≥10%）,未发现致命性药物不良反应。结论： 伊马替尼治疗KIT突变/扩增的晚期黑色素瘤具有一定的疗效，且安全性良好。

Objective:To explore efficacy and safety of tyrosine kinase inhibitor, imatinib, in the patients with advanced melanoma haboring KIT mutation / amplification. Methods: Clinical data of 78 patients with advanced melanoma haboring KIT mutation/amplification who were hospitalized in the Department of Renal Cancer and Melanoma, Cancer Hospital of Peking University during November 2009 to September 2015 were retrospectively analyzed. All of the patients received an imatinib oral treatment (400 mg/d) until disease progression or occur of intolerable adverse reactions. Results: Curative effects of the 78 patients were evaluated. In the patients of the whole group, objective remission rate was 22.4% and disease control rate was 60.6%. Among the 17 patients who were partial remission, the 11 patients were 11 exon or 13 exon mutation. For the patients of whole group, median progression free time was 3.9 months (95% CI: 2.1~5.8 months), median overall survival time was 13.2 months (95% CI: 10.1~16.3 months), survival rate for 1 year was 57%, survival rate for 2 years was 36% and survival rate for 3 years was 19%. The most common adverse reactions included edema, fatigue, anorexia, rash and neutropenia (all incidence rate ≥10%), and no fatal drug-related adverse reactions were observed. Conclusion:Imatinib could have certain curative effect for treatment of the patients with advanced melanoma baboring KIT mutation / amplification, and good safety.

国家自然科学基金(No.81172196, No.81102068, No.81272991, No.81301984)；北京市科技新星(No.XX2013027)；新世纪优秀人才支持计划(No.NCET-13-0007)；北京市青年拔尖个人项目(No.2014000021223ZK26)