维莫非尼有效治疗BRAF-V600E突变所致的难治性颅咽管瘤

doi:10.16352/j.issn.1001-6325.2024.06.0866

基础医学与临床 ›› 2024, Vol. 44 ›› Issue (6): 866-872.doi: 10.16352/j.issn.1001-6325.2024.06.0866

维莫非尼有效治疗BRAF-V600E突变所致的难治性颅咽管瘤

王曦¹, 叶婷^1,2, 聂敏¹, 伍学焱¹, 茅江峰^1*

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

收稿日期:2023-12-15 修回日期:2024-03-27 出版日期:2024-06-05 发布日期:2024-05-24
通讯作者: ^*maojf@pumch.cn
基金资助:
国家自然科学基金(81771576, 81971375);北京市自然科学基金(7202151, 7212080)

Beneficial effects of vemurafenib on craniopharyngioma carrying BRAF-V600E mutation

WANG Xi¹, YE Ting^1,2, NIE Min¹, WU Xueyan¹, MAO Jiangfeng^1*

1. Department of Endocrinology, Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730;
2. Department of Endocrinology, Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine, Urumqi 830000, China

Received:2023-12-15 Revised:2024-03-27 Online:2024-06-05 Published:2024-05-24
Contact: ^*maojf@pumch.cn

摘要/Abstract

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。

关键词: 乳头型颅咽管瘤, BRAF-V600E突变, BRAF抑制剂, MEK抑制剂

Abstract: 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.

Key words: papillary craniopharyngioma, BRAF-V600E mutation, BRAF inhibitors, MEK inhibitors

中图分类号:

R739.41

王曦, 叶婷, 聂敏, 伍学焱, 茅江峰. 维莫非尼有效治疗BRAF-V600E突变所致的难治性颅咽管瘤[J]. 基础医学与临床, 2024, 44(6): 866-872.

WANG Xi, YE Ting, NIE Min, WU Xueyan, MAO Jiangfeng. Beneficial effects of vemurafenib on craniopharyngioma carrying BRAF-V600E mutation[J]. Basic & Clinical Medicine, 2024, 44(6): 866-872.

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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

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