BRAF 突变型 PD-L1 阳性转移性骨肌系统病变源于肺腺癌，采用维莫非尼联合帕博利珠单抗治疗：一例报告。
BRAF mutant PD-L1 positive metastatic musculoskeletal lesions from primary lung adenocarcinoma treated with combination vemurafenib and pembrolizumab: a case report.
机构信息
University of the Philippines-Philippine General Hospital Division of Medical Oncology, Manila, Philippines.
Asian Cancer Institute-Asian Hospital & Medical Center, Muntinlupa City, Philippines.
出版信息
J Med Case Rep. 2024 Sep 28;18(1):450. doi: 10.1186/s13256-024-04773-z.
BACKGROUND
B-Raf mutation positivity, B-Raf mutation positivity occurrence with programmed death ligand 1 overexpression, and musculoskeletal metastasis are singly rare in non-small cell lung cancer, and even rarer is all occurring in one patient.
CASE PRESENTATION
A Filipino 63-year-old male had B-Raf mutation positive and programmed death ligand 1 overexpressed symptomatic metastatic musculoskeletal lesions from lung adenocarcinoma treated with a BRAF inhibitor, vemurafenib, in combination with an immune checkpoint inhibitor, pembrolizumab. He exhibited significant reduction in pain and burden of musculoskeletal metastatic lesions.
CONCLUSION
Although a rare occurrence and known to have a poor prognosis, B-Raf mutation positive programmed death ligand 1 overexpressed lung adenocarcinoma presenting with metastatic musculoskeletal lesions can respond favorably to a combination immune checkpoint inhibitor and BRAF inhibitor medication.
背景
BRAF 基因突变阳性、BRAF 基因突变阳性伴程序性死亡配体 1 过表达、以及肌肉骨骼转移在非小细胞肺癌中均较为罕见，而单一患者中同时存在这三种情况则更为罕见。
病例介绍
一名 63 岁菲律宾男性患有 BRAF 基因突变阳性且程序性死亡配体 1 过表达的症状性转移性肌肉骨骼肺腺癌，接受 BRAF 抑制剂维莫非尼联合免疫检查点抑制剂 pembrolizumab 治疗。他的肌肉骨骼转移性病变的疼痛和负担显著减轻。
结论
尽管这种情况较为罕见且预后不良，但 BRAF 基因突变阳性、程序性死亡配体 1 过表达的肺腺癌伴发转移性肌肉骨骼病变可对联合免疫检查点抑制剂和 BRAF 抑制剂药物治疗产生良好反应。
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