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乳腺癌基因分型与患者临床病理及预后的关系

Correlation of Genotypes with Clinicopathological and Prognostic Characteristics of Breast Cancer Patients

  • 摘要:
    目的 探讨乳腺癌基因分型与患者临床病理信息及预后特征的相关性。
    方法 在ArrayExpress数据库中下载乳腺癌的芯片数据,利用affy程序和YuGene程序将芯片数据进行整合,得到AE-meta乳腺癌数据集。下载癌症基因组图谱(TCGA)中乳腺癌RNA测序数据,得到TCGA乳腺癌数据集。利用AIMS程序进行乳腺癌基因分型,比较两个数据集中基因分型和患者临床病理信息及预后特征的相关性。
    结果 两数据集的临床病理信息相关性分析显示,LumA型多发于年长女性,肿瘤体积较小,分化较好,淋巴结侵犯转移也较少;Basal型好发于年轻女性,肿瘤体积较大,分化较差,淋巴结侵犯转移却较少;HER2型的恶性程度较高,淋巴结侵犯转移较多,但无特定发病年龄趋势。预后特征分析显示,LumA型患者生存预后最好、复发转移最少,HER2和Basal型患者生存预后最差、复发转移最多,LumB和NorL型死亡和复发风险处于中间。在骨转移及肺转移中,各基因亚型均有较高转移风险;在脑转移中,Basal型的风险最高;在肝转移中,Basal和HER2型的风险最高。
    结论 乳腺癌基因分型能较好反映患者临床病理和预后特征,具有较好的临床指导价值。

     

    Abstract:
    Objective To investigate the correlation of genotypes with clinicopathological and prognostic characteristics of breast cancer patients.
    Methods Breast cancer microarray datasets were downloaded from ArrayExpress, and integrated by Affy program and YuGene packages, named as AE-meta dataset. Breast cancer RNA sequencing data was downloaded from the cancer genome atlas (TCGA), named as TCGA breast cancer dataset. The absolute intrinsic molecular subtyping (AIMS) package was used to classify breast cancer subtypes. The correlation of genotypes with clinicopathological and prognostic data of breast cancer patients was analyzed.
    Results The LumA patients were more common in older women with smaller-sized tumors, better differentiation and less lymph node invasion. The Basal patients were more common in young women with bigger-sized tumors, poor differentiation and less lymph node invasion. Conversely, the HER2 patients were no specific age of onset, with significant lymph node metastasis and poor differentiation. Compared with other types, LumA patients had the longest survival time and rarely suffered from recurrence or metastasis. HER2 and Basal patients had the shortest survival time, with relapse and metastasis. All AIMS had high risk of metastasis to the bone and lung. In patients with brain metastasis, Basal patients had the worst prognosis. In patients with liver metastasis, Basal and HER2 patients had worse prognosis than other genotypes.
    Conclusion Breast cancer genotyping has a good clinical application value on reflecting the clinicopathological and prognostic features.

     

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