Related Experiment Video
Updated: Mar 25, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Next generation sequencing approach for detecting 491 fusion genes from human cancer
Kenichi Urakami1, Yuji Shimoda, Keiichi Ohshima
1Cancer Diagnostics Research Division, Shizuoka Cancer Center Research Institute.
Abstract:
Next-generation DNA sequencing (NGS) of the genomes of cancer cells is contributing to new discoveries that illuminate the mechanisms of tumorigenesis. To this end, the International Cancer Genome Consortium and The Cancer Genome Atlas are investigating novel alterations of genes that will define the pathways and mechanisms of the development and growth of cancers. These efforts contribute to the development of innovative pharmaceuticals as well as to the introduction of genome sequencing as a component of personalized medicine. In particular, chromosomal translocations that fuse coding sequences serve as important pharmaceutical targets and diagnostic markers given their association with tumorigenesis. Although increasing numbers of fusion genes are being discovered using NGS, the methodology used to identify such fusion genes is complicated, expensive, and requires relatively large samples. Here, to address these problems, we describe the design and development of a panel of 491 fusion genes that performed well in the analysis of cultured human cancer cell lines and 600 clinical tumor specimens.
Insights
Researchers developed a new panel of 491 fusion genes to improve the detection of cancer-driving gene fusions. This method simplifies complex next-generation sequencing (NGS) analysis for personalized cancer medicine.
Area of Science:
- Genomics
- Cancer Biology
- Molecular Diagnostics
Background:
- Next-generation sequencing (NGS) advances cancer genome analysis, revealing tumorigenesis mechanisms.
- Gene fusions are crucial in cancer development, acting as diagnostic markers and pharmaceutical targets.
- Current NGS methods for fusion gene detection are complex, costly, and require large samples.
Purpose of the Study:
- To develop a more efficient and accessible method for identifying fusion genes in cancer.
- To create a targeted gene panel for improved fusion gene discovery.
Main Methods:
- Design and development of a 491-gene fusion panel.
- Validation of the panel using cultured human cancer cell lines.
- Testing the panel on 600 clinical tumor specimens.
Main Results:
- The developed fusion gene panel demonstrated effective performance in analyzing cancer cell lines and clinical tumor samples.
- Successful identification of fusion genes within the tested specimens.
Conclusions:
- The novel fusion gene panel offers a promising solution to the challenges of current NGS-based fusion detection.
- This approach can facilitate the discovery of novel pharmaceutical targets and enhance personalized cancer medicine strategies.
