Detection of ROS1 gene fusions using next-generation sequencing for patients with malignancy in China
Ning Li1, Zhiqin Chen2, Mei Huang3
1Department of Oncology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Abstract:
Objective: This study aimed to identify ROS1 fusion partners in Chinese patients with solid tumors. Methods: Next-generation sequencing (NGS) analysis was used to detect ROS1 rearrangement in 45,438 Chinese patients with solid tumors between 2015 and 2020, and the clinical characteristics and genetic features of gene fusion were evaluated. H&E staining of the excised tumor tissues was conducted. Samples with a tumor cell content ≥ 20% were included for subsequent DNA extraction and sequencing analysis. Results: A total of 92 patients with ROS1 rearrangements were identified using next-generation sequencing, and the most common histological type lung cancer. From the 92 ROS1 fusion cases, 24 ROS1 fusion partners had been identified, including 14 novel partners and 10 reported partners. Of these, CD74, EZR, SDC4, and TPM3 were the four most frequently occurring partners. Fourteen novel ROS1 fusion partners were detected in 16 patients, including DCBLD1-ROS1, FRK-ROS1, and VGLL2-ROS1. In many patients, the ROS1 breakpoint was located between exons 32 and 34. Conclusion: This study describes 14 novel ROS1 fusion partners based on the largest ROS1 fusion cohort, and the ROS1 breakpoint was mostly located between exons 32 and 34. Additionally, next-generation sequencing is an optional method for identifying novel ROS1 fusions.
Insights
This study identified 14 novel ROS1 fusion partners in Chinese solid tumor patients using next-generation sequencing. The findings expand knowledge of ROS1 rearrangements and their clinical implications.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- ROS1 rearrangements are key drivers in various solid tumors.
- Identifying novel fusion partners is crucial for targeted therapy development.
Purpose of the Study:
- To identify ROS1 fusion partners in a large cohort of Chinese solid tumor patients.
- To characterize the clinical and genetic features of ROS1 fusions.
Main Methods:
- Next-generation sequencing (NGS) was performed on 45,438 Chinese solid tumor patients.
- Histological analysis (H&E staining) and DNA extraction were conducted on eligible samples.
- ROS1 rearrangements and fusion partners were identified and analyzed.
Main Results:
- 92 patients with ROS1 rearrangements were identified, with lung cancer being the most common type.
- 24 ROS1 fusion partners were identified, including 14 novel partners (e.g., DCBLD1-ROS1, FRK-ROS1, VGLL2-ROS1).
- The most frequent partners were CD74, EZR, SDC4, and TPM3, with breakpoints often between exons 32-34.
Conclusions:
- This study presents 14 novel ROS1 fusion partners from the largest ROS1 fusion cohort to date.
- The findings enhance understanding of ROS1 alterations in solid tumors.
- NGS is an effective method for identifying novel ROS1 fusions and guiding treatment strategies.
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