采用 NGS 技术研究结直肠癌肝肺转移中突变基因的机制。

The mechanism investigation of mutation genes in liver and lung metastasis of colorectal cancer by using NGS technique.

机构信息

Department of Colorectal Oncology, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin's Clinical Research Center for Cancer, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300060, China.

Department of Hepatobiliary Oncology, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin's Clinical Research Center for Cancer, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300060, China.

出版信息

Crit Rev Oncol Hematol. 2023 Aug;188:104057. doi: 10.1016/j.critrevonc.2023.104057. Epub 2023 Jun 14.

DOI:10.1016/j.critrevonc.2023.104057

PMID:37328085

Abstract

BACKGROUND

We analyzed the somatic mutation distributions as well as pathways associated with liver/lung metastasis of CRC using next-generation sequencing panel.

METHODS

We detected the somatic SNV/indel mutations of 1126 tumor-related genes in CRC, liver/lung metastasis of CRC and liver /lung cancer. We combined the MSK and GEO datasets to identified the genes and pathways related to the metastasis of CRC.

RESULTS

We identified 174 genes related to liver metastasis of CRC, 78 genes related to lung metastasis of CRC, and 57 genes related to both liver and lung metastasis in two datasets. The genes related to liver and lung metastasis were collectively enriched in various pathways. Finally we found that IRS1, BRCA2, EphA5, PTPRD, BRAF, and PTEN could be prognosis-related genes in CRC metastasis.

CONCLUSION

Our finding may help clarify the pathogenesis of CRC metastasis more clearly and provide new perspectives for the diagnosis and treatment of CRC metastasis.

摘要

背景

我们使用下一代测序 panel 分析了 CRC 肝/肺转移相关的体细胞突变分布以及通路。

方法

我们检测了 CRC、CRC 肝/肺转移和肝/肺癌中 1126 个肿瘤相关基因的体细胞 SNV/indel 突变。我们结合 MSK 和 GEO 数据集，确定了与 CRC 转移相关的基因和通路。

结果

我们在两个数据集中共鉴定出 174 个与 CRC 肝转移相关的基因、78 个与 CRC 肺转移相关的基因和 57 个与肝和肺转移均相关的基因。与肝和肺转移相关的基因在各种通路中被共同富集。最后我们发现 IRS1、BRCA2、EphA5、PTPRD、BRAF 和 PTEN 可能是 CRC 转移的预后相关基因。