上皮样血管内皮瘤
化疗
医学
种系突变
生殖系
融合基因
病理
突变
癌症研究
肿瘤科
内科学
基因
生物
遗传学
免疫组织化学
作者
Hao Zeng,Xiaojun Tang,Tian Xia,Yujie Liu,Panwen Tian
出处
期刊:Immunotherapy
[Future Medicine]
日期:2023-01-25
卷期号:15 (2): 77-83
被引量:2
标识
DOI:10.2217/imt-2022-0073
摘要
Pulmonary epithelioid hemangioendothelioma (PEH) is a rare vascular tumor with no established treatment protocol. The authors report the case of a young woman diagnosed with PEH. DNA and RNA analysis by next-generation sequencing was performed on the tumor tissue. A novel germline PALB2 mutation and classical WWTR1-CAMTA1 fusion were identified. She experienced a poor response to sintilimab (a PD-1 inhibitor) plus platinum-based chemotherapy as the first-line treatment. PEH patients harboring a germline PALB2 mutation and WWTR1-CAMTA1 gene fusion may respond poorly to treatment with PD-1 inhibitors plus chemotherapy.
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