维莫非尼有效治疗BRAF-V600E突变所致的难治性颅咽管瘤  

Beneficial effects of vemurafenib on craniopharyngioma carrying BRAF-V600E mutation

作　　者：王曦 叶婷 聂敏 伍学焱 茅江峰 WANG Xi;YE Ting;NIE Min;WU Xueyan;MAO Jiangfeng(Department of Endocrinology,Peking Union Medical College Hospital,CAMS&PUMC,Beijing 100730;Department of Endocrinology,Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine,Urumqi 830000,China)

机构地区：[1]中国医学科学院、北京协和医学院、北京协和医院内分泌科,北京100730 [2]新疆维吾尔自治区中医院内分泌科,乌鲁木齐830000

出　　处：《基础医学与临床》2024年第6期866-872,共7页Basic and Clinical Medicine

基　　金：国家自然科学基金(81771576,81971375);北京市自然科学基金(7202151,7212080)。

摘　　要：目的评价BRAF抑制剂维莫非尼(vemurafenib)治疗难治性颅咽管瘤(CP)的疗效和不良反应,增加临床用药经验。方法分析2例难治性CP的治疗过程并随访3~5年,评价药物疗效和不良反应。结合文献,提出CP治疗的新流程。结果1)2例成年乳头型CP患者,多次手术和放射治疗难以控制肿瘤,临床处理困难。2)基因检测显示肿瘤存在BRAF-V600E突变。患者接受维莫非尼治疗6.5~7.5个月,肿瘤体积缩小95%~99%。停药后随访3~5年,残留病灶稳定。3)主要不良反应为皮疹,呈剂量依赖性。4)文献报道33/34例患者治疗效果良好,肿瘤体积缩小50%~100%。结论BRAF抑制剂维莫非尼能有效治疗BRAF-V600E突变导致的难治性CP,不良反应可耐受。药物治疗或许会改变CP将来的诊治流程。Objective To evaluate the efficacy and adverse reactions of BRAF inhibitor vermorafenib on the treatment of refractory craniopharyngioma carrying BRAF-V600E mutation.Methods Clinical data of two patients with refractory craniopharyngiomas(CP)were recorded and reviewed.The patients were followed up for 3-5 years.Literature on CPs receiving BRAF or BRAF/MEK therapy was reviewed.Results 1)Papillary CP progressed after multiple operations and radiotherapy in two patients.Further treatments were very difficult.2)The presence of BRAF-V600E mutation in the tumor was confirmed,and vermorafenib was administered for 6.5-7.5 months.Tumor volumes remarkably shrank by 95%-99%.No tumor relapse was observed during the follow-up of 3-5 years after discontinuation of vemurafenib.3)The main adverse reaction was rash,which was dose dependent.4)Literature review showed the volume shrank by 50%-100%in 33/34 tumors during BRAF or BRAF/MEK inhibitor therapy.Conclusions BRAF inhibitor vemurafenib is effective in treating refractory craniopharyngioma carrying BRAF-V600E mutation with endurable side effects,which may bring some changes to the management of CP in future.

关 键 词：乳头型颅咽管瘤 BRAF-V600E突变 BRAF抑制剂 MEK抑制剂 

分 类 号：R739.41[医药卫生—肿瘤]