华东沿海地区多中心40例胰腺肿瘤患者基因组图谱分析

王晶; 谭斌; 赵志杰; 仲灏辰; 曲林林

doi:10.3969/j.issn.1001-5256.2022.02.028

华东沿海地区多中心40例胰腺肿瘤患者基因组图谱分析

DOI: 10.3969/j.issn.1001-5256.2022.02.028

青岛大学附属医院肝胆胰外科，山东青岛 266003

基金项目:

山东省中青年科学家科研奖励基金 (BS2011YY004);

湖北省陈孝平科技发展基金 (CXPJJH12000002-2020057);

中华国际医学交流基金会2019年度黎介寿肠道屏障研究基金 (Z-2017-24-2009)

利益冲突声明：本研究不存在研究者、伦理委员会成员、受试者监护人以及与公开研究成果有关的利益冲突。

作者贡献声明：王晶、谭斌负责课题设计，资料分析，撰写论文；赵志杰、仲灏辰参与收集数据，修改论文；曲林林负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
曲林林，taxue9455@sina.com

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出版历程
- 收稿日期: 2021-07-07
- 录用日期: 2021-08-26
- 出版日期: 2022-02-20

Genomic profile of pancreatic tumor in the coastal regions of Eastern China: A multicenter analysis of 40 cases

Department of Hepatobiliary and Pancreatic Surgery, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China

Research funding:

Scientific Research Award Fund for Young and Middle-Aged Scientists in Shandong Province (BS2011YY004);

Chen Xiaoping Science and Technology Development Fund of Hubei Province (CXPJJH12000002-2020057);

Li Jieshou Intestinal Barrier Research Foundation of China International Medical Exchange Foundation in 2019 (Z-2017-24-2009)

More Information

Corresponding author: QU Linlin, taxue9455@sina.com

摘要

摘要: 目的探讨我国华东沿海地区胰腺癌患者的基因突变情况，为个体化治疗提供依据。方法选取2017年1月—2019年6月在青岛大学附属医院、青岛市立医院、烟台山医院、烟台中法友好医院收治并经手术治疗后诊断为胰腺恶性肿瘤的患者40例。采用下一代测序技术检测肿瘤组织和体细胞中的基因突变。绘制基因突变图谱，分析基因组改变。计数资料组间比较采用χ²检验或Fisher精确检验。采用Kaplan-Meier法绘制生存曲线，组间比较采用log-rank检验。结果 40例患者中胰腺导管腺癌34例(85.0%)，胰腺实性假乳头状肿瘤3例(7.5%)，胰腺神经内分泌肿瘤1例(2.5%)，分型不清2例(5.0%)。KRAS(80.0%，32/40)、TP53(70.0%，28/40)、CDKN2A(32.5%，13/40)、SMAD4(17.5%，7/40)和AKT2(17.5%，7/40)是最常见的突变。5种常见基因突变的生存时间差异均无统计学意义(P值均＞0.05)。结论下一代测序技术能够提供全面、准确的基因组改变信息，可为胰腺癌的诊断和精确治疗提供新的潜在生物标志物。通过对突变基因进行分析，从而为胰腺癌的个体化治疗奠定基础。
- 胰腺肿瘤 /
- 基因组 /
- 突变
Abstract: Objective To investigate the gene mutations of Chinese patients with pancreatic cancer in the coastal regions of Eastern China, and to provide a basis for individualized treatment. Methods A total of 40 patients who were admitted and diagnosed with malignant pancreatic tumor after surgical treatment in The Affiliated Hospital of Qingdao University, Qingdao Municipal Hospital, Yantaishan Hospital, and Yantai Sino-France Friendship Hospital from January 2017 to June 2019 were enrolled. Next-generation sequencing (NGS) was used to detect gene mutations in tumor tissue and somatic cells, and the map of gene mutations was plotted to analyze genomic alterations. The chi-square test or the Fisher's exact test was used for comparison of categorical data between groups. The Kaplan-Meier method was used to plot survival curves, and the log-rank test was used for comparison between groups. Results Among the 40 patients, 34 (85.0%) had pancreatic ductal adenocarcinoma, 3 (7.5%) had solid pseudopapillary neoplasm of the pancreas, 1 (2.5%) had pancreatic neuroendocrine tumor, and 2 (5.0%) had unclear typing. KRAS (80.0%, 32/40), TP53 (70.0%, 28/40), CDKN2A (32.5%, 13/40), SMAD4 (17.5%, 7/40), and AKT2 (17.5%, 7/40) were the most common mutations, and there was no significant difference in survival time between the patients with these five common gene mutations (all P > 0.05). Conclusion NGS technology can provide comprehensive and accurate information of genomic alterations and may provide novel potential biomarkers for the diagnosis and precise treatment of pancreatic cancer. The analysis of mutant genes also lays a foundation for the individualized treatment of pancreatic cancer.
- Pancreatic Neoplasms /
- Genome /
- Mutation

HTML全文

图 1 男女胰腺癌患者最常见的突变基因

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图 2 不同年龄组中最常见的突变基因

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图 3 神经和血管侵犯中最常见的突变基因

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图 4 胰腺癌突变基因生存分析

注：a，KRAS基因突变生存分析；b，TP53基因突变生存分析；c，CDKN2A基因突变生存分析；d，AKT2基因突变生存分析；e，SMAD4基因突变生存分析；f，CTNNB1基因突变生存分析。

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