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胃癌与基因组学:文献综述

英文原题:Gastric cancer and genomics: review of literature.

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Gastric cancer and genomics: review of literature.

PubMed 2022/06/25(内容时间) J Gastroenterol Q1 · IF 5.7(JCR 2025)

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中文摘要

胃癌(GC)在许多国家是一个重要的健康问题。GC是一种根据组织病理学差异进行分层的异质性疾病。然而,这些变异并未用于确定GC的管理。下一代测序(NGS)技术已被广泛使用,癌症基因组分析最近揭示了各种恶性肿瘤与基因组信息之间的关系。2014年,使用全外显子组测序(WES)和全基因组测序(WGS)对GC的研究揭示了GC基因组学的整体结构。利用NGS的基因组学已被用于识别GC的新治疗靶点。

此外,基于肿瘤组织多重基因面板检测为靶点提供特定治疗的个性化医疗已进入临床使用。最近,免疫检查点抑制剂(ICIs)已被用于GC治疗;然而,其缓解率有限。为了预测ICIs对GC的抗肿瘤效果并选择适合ICI治疗的患者,基因组学不仅提供了肿瘤的信息数据,还提供了肿瘤微环境的信息数据,例如TIL(肿瘤浸润淋巴细胞)。在不可切除或复发性恶性肿瘤的治疗策略中,靶点不仅是原发灶,还包括转移灶,而转移灶通常对化疗耐药。与结直肠癌不同,GC中原发灶和转移灶之间存在遗传变异的异质性状态。液体活检分析也有助于预测原发灶和转移灶的基因组状态。基因组学已成为GC治疗不可或缺的工具,并有望在未来进一步发展。

展开英文摘要原文

Gastric cancer (GC) is a major health concern in many countries. GC is a heterogeneous disease stratified by histopathological differences.

However, these variations are not used to determine GC management. Next-generation sequencing (NGS) technologies have become widely used, and cancer genomic analysis has recently revealed the relationships between various malignant tumors and genomic information. In 2014, studies using whole-exome sequencing (WES) and whole-genome sequencing (WGS) for GC revealed the entire structure of GC genomics. Genomics with NGS has been used to identify new therapeutic targets for GC.

Moreover, personalized medicine to provide specific therapy for targets based on multiplex gene panel testing of tumor tissues has become of clinical use. Recently, immune checkpoint inhibitors (ICIs) have been used for GC treatment; however, their response rates are limited. To predict the anti-tumor effects of ICIs for GC and to select patients suitable for ICI treatment, genomics also provides informative data not only of tumors but also of tumor microenvironments, such as tumor-infiltrating lymphocytes.

In therapeutic strategies for unresectable or recurrent malignant tumors, the target is not only the primary lesion but also metastatic lesions, and metastatic lesions are often resistant to chemotherapy. Unlike colorectal carcinoma, there is a heterogeneous status of genetic variants between the primary and metastatic lesions in GC.

Liquid biopsy analysis is also helpful for predicting the genomic status of both primary and metastatic lesions. Genomics has become an indispensable tool for GC treatment and is expected to be further developed in the future.

论文信息

作者
Onoyama T、Ishikawa S、Isomoto H
第一作者单位
Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.Japan
通讯作者单位
Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan. ishum-prm@m.u-tokyo.ac.jp.Japan
文献类型
综述
期刊
Journal of gastroenterology2022 Aug
原文标识
PubMed 35751736 · DOI 10.1007/s00535-022-01879-3