| Autor: |
X W, Jiang, Z K, Li, W L, Liang, J H, Li, C T, Chen, P, Zheng, Peng, Fang |
| Rok vydání: |
2022 |
| Zdroj: |
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 56(12) |
| ISSN: |
0253-9624 |
| Popis: |
Gene fusion is one of the mechanisms that promote tumor development. It is also an important cause for the poor prognosis of patients. The detection of gene fusion is crucial for the recognition of tumor biomarker, cancer subtype classification, and clinical medication guidance. Appropriate methods can help the early diagnosis and avoid ineffective medication. Traditional tests include fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), reverse transcription of PCR (RT-PCR), and next generation sequencing (NGS). The next generation sequencing (NGS) mainly includes: whole genome sequencing (WGS), whole transcriptome sequencing (WTS) and target sequencing (hybridization capture method/amplicon method). In clinical concomitant diagnostic applications, some factors such as operability, time/money costs, and the level of expertise required for data analysis should be considered. This article concludes with a discussion of the technical principles of different detection methods and advantages/limitations. Meanwhile, it provides reference opinions for the detection methods of gene fusion.基因融合是促肿瘤发展的基因组机制之一，也是影响患者预后不良的重要原因。基因融合的检测对于肿瘤生物标志物的识别、癌症亚型分类以及最终的临床用药指导至关重要，适宜的方法有助于肿瘤早期诊断及避免无效用药。传统的检测方法包括荧光原位杂交（fluorescence in situ hybridization，FISH）、免疫组化（immunohistochemical，IHC）、逆转录PCR（reverse transcription-polymerase chain reaction，RT-PCR）以及下一代测序技术（next generation sequencing，NGS）。下一代测序主要有全基因组测序（whole genome sequencing，WGS）、转录组测序（whole transcriptome sequencing，WTS）和目标区域测序（杂交捕获法/扩增子法）等技术。在临床伴随诊断的应用中，检测方法的选择需要综合考虑可操作性、时间和费用以及数据分析所需的专业知识水平等因素。本文综合阐述针对基因融合的不同检测方法、技术原理以及各自优点和局限性，为基因融合检测方法的选择提供参考依据。. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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