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原发结直肠癌与转移性腹膜癌的遗传变异比较。

Comparison of genetic variation between primary colorectal cancer and metastatic peritoneal cancer.

机构信息

NGS Clinical Laboratory, Dankook University Hospital, Cheonan, Republic of Korea.

Department of Surgery, Dankook University College of Medicine, Cheonan, Republic of Korea.

出版信息

Genes Genomics. 2023 Aug;45(8):989-1001. doi: 10.1007/s13258-023-01408-3. Epub 2023 Jun 5.

Abstract

BACKGROUND

Among cancer metastases by primary colorectal cancer (CRC), peritoneal metastasis is the second most common metastatic lesion after liver metastasis. In treating metastatic CRC, it is very important to differentiate targeted-therapy and chemotherapy according to the characteristics of each lesion because the genetic variation of the primary and metastatic lesions are different. However, there are few studies of genetic characteristics on peritoneal metastasis caused by primary CRC, so molecular-level studies are continuously required.

OBJECTIVE

We propose an appropriate peritoneal metastasis treatment policy by identifying the genetic characteristics between primary CRC and synchronous peritoneal metastatic lesions.

METHODS

Primary CRC and synchronous peritoneal metastasis samples were analyzed in pairs from six patients using Comprehensive Cancer Panel (409 cancer-related genes, Thermo Fisher Scientific, USA) and next-generation sequencing (NGS).

RESULTS

The mutations were commonly found on the KMT2C and THBS1 genes in both primary CRC and peritoneal metastasis. The PDE4DIP gene was mutated in all cases except for on a sample of peritoneal metastasis. As a result of analysis using the mutation database, we confirmed that the gene mutations of primary CRC and the peritoneal metastasis derived from it showed the same tendency, although we did not accompany the gene expression level or epigenetic study.

CONCLUSION

It is thought that the treatment policy through molecular genetic testing of primary CRC can also be applied to peritoneal metastasis treatment. Our study is expected to be the basis for further peritoneal metastasis research.

摘要

背景

在原发性结直肠癌(CRC)转移中,腹膜转移是继肝转移之后第二常见的转移病灶。在治疗转移性 CRC 时,根据每个病灶的特点区分靶向治疗和化疗非常重要,因为原发性和转移性病灶的遗传变异不同。然而,关于原发性 CRC 引起的腹膜转移的遗传特征研究较少,因此需要不断进行分子水平的研究。

目的

通过识别原发性 CRC 和同步腹膜转移性病变之间的遗传特征,提出适当的腹膜转移治疗策略。

方法

从 6 名患者中对原发性 CRC 和同步腹膜转移样本进行配对分析,使用综合癌症面板(409 个癌症相关基因,美国 Thermo Fisher Scientific)和下一代测序(NGS)。

结果

在原发性 CRC 和腹膜转移中均常见 KMT2C 和 THBS1 基因的突变。除了一个腹膜转移样本外,所有样本均检测到 PDE4DIP 基因突变。通过突变数据库的分析,我们证实了尽管没有伴随基因表达水平或表观遗传研究,但原发性 CRC 和源自其的腹膜转移的基因突变表现出相同的趋势。

结论

通过对原发性 CRC 的分子遗传检测制定的治疗策略也可以应用于腹膜转移的治疗。我们的研究有望为进一步的腹膜转移研究提供基础。

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