罕见基因变异结直肠癌的临床诊断和治疗进展。

IF 5.6 2区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Shuyi Chen, Jing Gu, Kaichun Wu, Xiaodi Zhao, Yuanyuan Lu
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引用次数: 0

摘要

对于基因驱动因素阳性的晚期结直肠癌(CRC)来说,靶向治疗至关重要。随着深度测序技术和新型靶向药物的发展,现有的标准分子病理学检测系统和治疗策略已无法满足对晚期 CRC 患者进行精心治疗的要求。因此,临床实践中需要对罕见基因变异进行诊断和靶向治疗。罕见基因突变、扩增和重排通常与预后不良和对常规治疗反应差有关。本综述总结了罕见基因变异的临床诊断和治疗方法,这些基因包括ERB-B2受体酪氨酸激酶2(ERBB2)、B-Raf原癌基因丝氨酸/苏氨酸激酶(BRAF)、ALK受体酪氨酸激酶/ROS原癌基因1受体酪氨酸激酶(ALK/ROS1)、神经营养受体酪氨酸激酶 (NTRKs)、ret 原癌基因 (RET)、成纤维细胞生长因子受体 2 (FGFR2) 和表皮生长因子受体 (EGFR),以加深对罕见基因变异患者的了解并确定更准确的个性化治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants.

Targeted therapy is crucial for advanced colorectal cancer (CRC) positive for genetic drivers. With advances in deep sequencing technology and new targeted drugs, existing standard molecular pathological detection systems and therapeutic strategies can no longer meet the requirements for careful management of patients with advanced CRC. Thus, rare genetic variations require diagnosis and targeted therapy in clinical practice. Rare gene mutations, amplifications, and rearrangements are usually associated with poor prognosis and poor response to conventional therapy. This review summarizes the clinical diagnosis and treatment of rare genetic variations, in genes including erb-b2 receptor tyrosine kinase 2 (ERBB2), B-Raf proto-oncogene, serine/threonine kinase (BRAF), ALK receptor tyrosine kinase/ROS proto-oncogene 1, receptor tyrosine kinase (ALK/ROS1), neurotrophic receptor tyrosine kinases (NTRKs), ret proto-oncogene (RET), fibroblast growth factor receptor 2 (FGFR2), and epidermal growth factor receptor (EGFR), to enhance understanding and identify more accurate personalized treatments for patients with rare genetic variations.

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来源期刊
Cancer Biology & Medicine
Cancer Biology & Medicine Medicine-Oncology
CiteScore
9.80
自引率
3.60%
发文量
1143
审稿时长
12 weeks
期刊介绍: Cancer Biology & Medicine (ISSN 2095-3941) is a peer-reviewed open-access journal of Chinese Anti-cancer Association (CACA), which is the leading professional society of oncology in China. The journal quarterly provides innovative and significant information on biological basis of cancer, cancer microenvironment, translational cancer research, and all aspects of clinical cancer research. The journal also publishes significant perspectives on indigenous cancer types in China.
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