Research progression of gene fusion detection technology based on next generation sequencing in tumor companion diagnostics.
10.3760/cma.j.cn112150-20220615-00612
- Author:
Xi Wen JIANG
1
;
San Xi LI
2
;
Zhi Kun LIANG
1
;
Wei Lin LI
1
;
Jia Hui CHEN
1
;
Chun Ting ZHENG
1
;
Peng FANG
1
Author Information
1. National and Regional Joint Engineering Laboratory for Clinical Medical Molecular Diagnostics, Research Center of Medical and Pharmaceutical Bioengineering, Ministry of Health, Guangzhou 510665, China.
2. Department of Laboratory Medicine, the 928th Hospital of PLA Joint Logistic Support Force,Haikou 571159, China.
- Publication Type:Journal Article
- MeSH:
Humans;
High-Throughput Nucleotide Sequencing/methods*;
In Situ Hybridization, Fluorescence;
Neoplasms/genetics*;
Gene Fusion;
Technology;
Lung Neoplasms/diagnosis*
- From:
Chinese Journal of Preventive Medicine
2022;56(12):1880-1888
- CountryChina
- Language:Chinese
-
Abstract:
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.
