三阴性乳腺癌基因拷贝数变异与患者临床病理特征及预后的关系

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摘要目的了解三阴性乳腺癌组织与癌旁组织基因拷贝数变异（CNV）的情况，探讨CNV与三阴性乳腺癌患者临床病理特征和预后的关系。方法收集2014年1月—2016年1月新疆医科大学附属肿瘤医院行手术治疗的86例三阴性乳腺癌患者的癌组织及癌旁组织标本。应用全外显子高通量平行测序技术检测样本中CNV的情况，并结合临床病理资料与随访记录综合分析。结果截至2020年1月，随访5年，患者复发率为34.88%。86对样本中癌组织差异CNV显著高于癌旁组织，差异有高度统计学意义（P ＜ 0.01）。8号染色体有最频繁的CNV扩增，17号染色体有最频繁的CNV丢失及杂合区域；发生8、17号染色体CNV患者的5年生存率低于未出现CNV的患者，差异有统计学意义（P ＜ 0.05）。年龄、原发肿瘤大小、淋巴结转移情况与CNV情况呈线性相关（r = -0.87、0.92、0.94，P ＜ 0.05）；TNM分期与CNV情况呈正相关（r = 0.83，P ＜ 0.05）。Cox多因素回归分析显示，CNV情况、TNM分期是三阴性乳腺癌患者预后的独立影响因素（HR = 0.456、1.927，P ＜ 0.05）。结论 TNBC患者癌组织、癌旁组织的差异CNV与年龄、原发肿瘤大小、淋巴结转移及TNM分期相关。此外，CNV情况及TNM分期影响患者预后。

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	李宇翔丰锦春吴涛阿孜古丽·阿布都热合曼郁璐月朱丽萍

关键词 ：三阴性乳腺癌, 基因拷贝数突变, 临床病理学特征, 预后

Abstract：Objective To understand the gene copy number variation (CNV) in triple-negative breast cancer tissues and adjacent tissues, and to explore the relationship between CNV and the clinicopathological characteristics and prognosis of patients with triple-negative breast cancer. Methods From January 2014 to January 2016, the cancer tissue and adjacent tissue or 86 patients with triple-negative breast cancer who underwent surgery in the Tumor Hospital Affiliated to Xinjiang Medical University were collected. The whole exome high-throughput parallel sequencing technology was used to detect the condition of CNV in the samples, while clinical pathological data were combined and follow-up was recorded for comprehensive analysis. Results As of January 2020, after five years of follow-up, the recurrence rate was 34.88%. The difference of CNV in cancer tissues in 86 pairs of samples was significantly higher than that in adjacent tissues, and the difference was highly statistically significant (P ＜ 0.01). Chromosome 8 had the most frequent CNV amplification, and chromosome 17 had the most frequent CNV loss and heterozygous regions; the five-year survival rate of CNV patients on chromosomes 8 and 17 were lower than those of patients without CNV, and the differences were statistically significant (P ＜ 0.05). Age, primary tumor size, lymph node metastasis and CNV status were linearly correlated (r = -0.87, 0.92, 0.94, P ＜ 0.05); TNM staging was positively correlated with CNV status (r = 0.83, P ＜ 0.05). Cox multivariate regression analysis showed that CNV status and TNM staging were independent factors affecting the prognosis of patients with triple-negative breast cancer (HR = 0.456, 1.927, P ＜ 0.05). Conclusion The difference of CNV in cancer tissue and adjacent tissues of TNBC patients is related to age, primary tumor size, lymph node metastasis and TNM stage. In addition, CNV status and TNM staging affect the prognosis of patients.

Key words： Triple negative breast cancer Copy number variation Clinicopathological characteristic Prognosis

基金资助:新疆维吾尔自治区研究生科研创新项目（XJ2019G216）；
新疆医科大学研究生创新创业启动基金项目（CXCY2018054）。

通讯作者: 朱丽萍（1961.10-），女，硕士生导师，主要从事恶性肿瘤研究工作。

作者简介: 李宇翔（1994.5-），男，新疆医科大学第三临床医学院2018级肿瘤学专业在读硕士研究生；研究方向：乳腺癌。

引用本文:

李宇翔丰锦春吴涛阿孜古丽·阿布都热合曼郁璐月朱丽萍. 三阴性乳腺癌基因拷贝数变异与患者临床病理特征及预后的关系[J]. 中国医药导报, 2021, 18(5): 28-32.
LI Yuxiang FENG Jinchun WU Tao Aziguli·Abudureheman YU Luyue ZHU Liping. Associations between triple-negative breast cancer gene copy number variation and clinicopathological characteristic on the prognosis of patients. 中国医药导报, 2021, 18(5): 28-32.

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