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通过下一代测序检测基因突变以预测广泛期小细胞肺癌的预后

Detection of Genetic Mutations by Next-Generation Sequencing for Predicting Prognosis of Extensive-Stage Small-Cell Lung Cancer.

作者信息

Chen Dongfang, Xu Jianlin, Qiao Rong, Zhao Yizhuo, Chu Tianqing, Han Baohui, Zhong Runbo

机构信息

Department of Pulmonary Medicine, Shanghai Chest Hospital, Shanghai Jiaotong University, Shanghai, China.

出版信息

J Oncol. 2020 Nov 19;2020:8811487. doi: 10.1155/2020/8811487. eCollection 2020.

DOI:10.1155/2020/8811487
PMID:33643409
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7901041/
Abstract

Some studies have revealed that specific genetic mutations could be associated with chemotherapy response or even survival in small-cell lung cancer (SCLC). Our retrospective study aimed to identify the correlation between genetic mutations and progression-free survival (PFS) in extensive-stage SCLC after first-line chemotherapy. A total of 75 patients with extensive-stage SCLC confirmed by histopathology from February 2018 to February 2019 were retrospectively analyzed. The biopsy specimens of all patients were analyzed by Next-Generation Sequencing (NGS). All patients received first-line chemotherapy and follow-up at Shanghai Chest Hospital. Eleven genes were mutated in, at least, 10% of the 75 patients, including (96%), (77%), (32%), (21%), (16%), (16%), (15%), (15%), (15%), (13%), and (10%). The median number of mutated genes among all patients was 5. Patients with more than 5 mutated genes (PFS = 6.7 months, =0.004), mutant (PFS = 5.0 months, =0.011), and mutant (PFS = 6.7 months, =0.046) had better PFS after first-line chemotherapy than other patients. Multivariate Cox regression analysis showed that patients who achieved a PR (HR 3.729, 95% CI 2.038-6.822), had more than 5 mutated genes (HR 1.929, 95% CI 1.096-3.396), had mutations (HR 4.581, 95% CI 1.721-12.195), and had no liver metastasis (HR 0.415, 95% CI 0.181-0.951) showed improvements in PFS after first-line chemotherapy. In conclusion, the number of mutated genes and mutation status in extensive-stage SCLC were significantly related to PFS after first-line chemotherapy.

摘要

一些研究表明,特定的基因突变可能与小细胞肺癌(SCLC)的化疗反应甚至生存率相关。我们的回顾性研究旨在确定广泛期小细胞肺癌一线化疗后基因突变与无进展生存期(PFS)之间的相关性。对2018年2月至2019年2月期间经组织病理学确诊的75例广泛期小细胞肺癌患者进行了回顾性分析。所有患者的活检标本均采用二代测序(NGS)进行分析。所有患者均在上海胸科医院接受一线化疗及随访。在75例患者中,至少10%的患者有11个基因发生突变,包括(96%)、(77%)、(32%)、(21%)、(16%)、(16%)、(15%)、(15%)、(15%)、(13%)和(10%)。所有患者中突变基因的中位数为5个。突变基因超过5个的患者(PFS = 6.7个月,= 0.004)、突变(PFS = 5.0个月,= 0.011)和突变(PFS = 6.7个月,= 0.046)的患者一线化疗后的PFS优于其他患者。多因素Cox回归分析显示,达到PR的患者(HR 3.729,95%CI 2.038 - 6.822)、突变基因超过5个的患者(HR 1.929,95%CI 1.096 - 3.396)、有突变的患者(HR 4.581,95%CI 1.721 - 12.195)以及无肝转移的患者(HR 0.415,95%CI 0.181 - 0.951)一线化疗后的PFS有所改善。总之,广泛期小细胞肺癌的突变基因数量和突变状态与一线化疗后的PFS显著相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b48/7901041/c1b0de05957d/JO2020-8811487.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b48/7901041/c1b0de05957d/JO2020-8811487.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b48/7901041/c1b0de05957d/JO2020-8811487.001.jpg

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