POLE Mutation Associated With Microsatellite Instability and High Tumor Mutational Burden Confers Exquisite Sensitivity to Immune Checkpoint Inhibitor Therapy in Non-Small Cell Lung Cancer: A Case Report and Genomic Database Analysis.
作者信息
Lara Matthew S, Riess Jonathan W, Kaleka Guneet, Borowsky Alexander, McPherson John D, Godoy Luis A, Grego Lorenzo, Lara Primo N, Mitsiades Nicholas
机构信息
ARC-MD Program, UC Davis School of Medicine, Sacramento, CA.
Davis Comprehensive Cancer Center, University of California (UC), Sacramento, CA.
出版信息
Clin Lung Cancer. 2025 May;26(3):e207-e213. doi: 10.1016/j.cllc.2025.01.005. Epub 2025 Jan 8.
Abstract
摘要
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1
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N Engl J Med. 2024 May 16;390(19):1756-1769. doi: 10.1056/NEJMoa2311926.
2
Cancer statistics, 2024.2024年癌症统计数据。
CA Cancer J Clin. 2024 Jan-Feb;74(1):12-49. doi: 10.3322/caac.21820. Epub 2024 Jan 17.
3
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Clin Transl Oncol. 2024 Jun;26(6):1446-1458. doi: 10.1007/s12094-023-03370-8. Epub 2024 Jan 8.
4
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Thorac Cancer. 2023 Aug;14(23):2269-2274. doi: 10.1111/1759-7714.15012. Epub 2023 Jun 22.
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6
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J Exp Clin Cancer Res. 2022 Jul 2;41(1):216. doi: 10.1186/s13046-022-02422-1.
7
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Cancer Discov. 2021 May;11(5):1176-1191. doi: 10.1158/2159-8290.CD-20-0790. Epub 2020 Dec 18.
9
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