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Updated: May 31, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Comparison of actionable alterations in cancers with kinase fusion, mutation, and copy number alteration
Shinsuke Suzuki1,2,3, Toshiaki Akahane1,4, Akihide Tanimoto4
1Cancer Center, Kagoshima University Hospital, Kagoshima, Japan.
Abstract:
Kinase-related gene fusion and point mutations play pivotal roles as drivers in cancer, necessitating optimized, targeted therapy against these alterations. The efficacy of molecularly targeted therapeutics varies depending on the specific alteration, with great success reported for such therapeutics in the treatment of cancer with kinase fusion proteins. However, the involvement of actionable alterations in solid tumors, especially regarding kinase fusions, remains unclear. Therefore, in this study, we aimed to compare the number of actionable alterations in patients with tyrosine or serine/threonine kinase domain fusions, mutations, and copy number alterations (CNAs). We analyzed 613 patients with 40 solid cancer types who visited our division between June 2020 and April 2024. Furthermore, to detect alterations involving multiple-fusion calling, we performed comprehensive genomic sequencing using FoundationOne® companion diagnostic (F1CDx) and FoundationOne® Liquid companion diagnostic (F1LCDx). Patient characteristics and genomic profiles were analyzed to assess the frequency and distribution of actionable alterations across different cancer types. Notably, 44 of the 613 patients had fusions involving kinases, transcriptional regulators, or tumor suppressors. F1CDx and F1LCDx detected 13 cases with kinase-domain fusions. We identified 117 patients with kinase-domain mutations and 58 with kinase-domain CNAs. The number of actionable alterations in patients with kinase-domain fusion, mutation, or CNA (median [interquartile range; IQR]) was 2 (1-3), 5 (3-7), and 6 (4-8), respectively. Patients with kinase fusion had significantly fewer actionable alterations than those with kinase-domain mutations and CNAs. However, those with fusion involving tumor suppressors tended to have more actionable alterations (median [IQR]; 4 [2-9]). Cancers with kinase fusions exhibited fewer actionable alterations than those with kinase mutations and CNAs. These findings underscore the importance of detecting kinase alterations and indicate the pivotal role of kinase fusions as strong drivers of cancer development, highlighting their potential as prime targets for molecular therapeutics.
Insights
Kinase fusions are key cancer drivers, but patients with these alterations have fewer actionable targets than those with mutations or copy number changes. Detecting kinase alterations is crucial for developing targeted therapies.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Kinase gene fusions and mutations are critical drivers of cancer, necessitating targeted therapies.
- While targeted therapies show success for kinase fusions, their role in solid tumors is less understood.
- Actionable alterations, including kinase fusions, are crucial for personalized cancer treatment.
Purpose of the Study:
- To compare the number of actionable alterations in patients with kinase fusions, mutations, and copy number alterations (CNAs).
- To assess the frequency and distribution of actionable genomic alterations across various solid tumor types.
Main Methods:
- Comprehensive genomic profiling using FoundationOne® (F1CDx) and FoundationOne® Liquid (F1LCDx) on 613 solid tumor patients.
- Analysis of patient characteristics and genomic profiles to identify kinase fusions, mutations, and CNAs.
- Comparison of the number of actionable alterations based on the type of kinase alteration detected.
Main Results:
- 13 kinase-domain fusions were detected among 44 patients with various fusions.
- 117 patients had kinase-domain mutations and 58 had kinase-domain CNAs.
- Patients with kinase fusions had fewer actionable alterations (median 2) compared to mutations (median 5) and CNAs (median 6).
- Fusions involving tumor suppressors were associated with more actionable alterations (median 4).
Conclusions:
- Cancers with kinase fusions show fewer actionable alterations than those with kinase mutations or CNAs.
- Kinase fusions are significant drivers of cancer and represent promising targets for molecular therapeutics.
- Comprehensive genomic profiling is essential for identifying kinase alterations and guiding targeted treatment strategies.
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