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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Genomic Landscape Analysis of Canine Pulmonary Adenocarcinoma Reveals Candidate Targetable Gene Fusions
Sharadha Sakthikumar1, William P D Hendricks1, David Rainford1
1Translational Genomics Research Institute, Phoenix, Arizona, USA.
Abstract:
Spontaneously occurring primary canine pulmonary adenocarcinoma (cPAC) exhibits clinicopathological and molecular similarities to never-smoker human lung cancers. Shared genomic alterations, including point mutations, indel mutations and copy number changes particularly in HER2 signalling, are significant therapeutic targets, especially for HER2 and tyrosine kinase inhibitors. Whilst progress has been made in identifying mutational drivers in canine cancers, the role of somatic gene fusions in cPAC remains poorly understood, despite their importance in other cancers as drivers and therapeutic targets. This study investigates the fusion landscape in cPAC by analysing RNA-seq data from a cohort of 36 primary tumour samples and reports oncogenic fusions with therapeutic potential. Notably, NRG1 fusions were identified in a subset of tumours, including recurrent SDC4::NRG1 events, potentially playing key roles in disease progression. NRG1 fusions, known to activate HER2 signalling, are mutually exclusive with HER2 gene alterations, indicating convergence on the same pathway. Tumours with SDC4::NRG1 fusions also overexpress HER2 pathway-related genes, reinforcing NRG1-driven activation. Similar fusions occur in never-smoker human non-small cell adenocarcinoma lacking other common drivers, underscoring their therapeutic importance. These findings highlight NRG1 fusions as critical contributors to cPAC tumorigenesis and warrant further clinical and comparative investigation. Additionally, novel fusions disrupting the PTEN axis were identified, leading to truncated PTEN and associated protein domains. These disruptions could impair tumour-suppressive pathways, presenting additional therapeutic targets. This research emphasises the broader relevance of fusion-driven mechanisms in cPAC tumorigenesis, advancing the understanding of both canine and human lung cancers for clinical and comparative studies.
Insights
Canine pulmonary adenocarcinoma shares similarities with human lung cancer. Researchers discovered NRG1 gene fusions in canine tumors, activating HER2 signaling and offering potential therapeutic targets for both canine and human cancers.
Area of Science:
- Comparative oncology
- Molecular biology
- Genomics
Background:
- Canine pulmonary adenocarcinoma (cPAC) mirrors human lung cancers, particularly in never-smokers.
- Genomic alterations in HER2 signaling are key therapeutic targets in cPAC.
- The role of gene fusions in cPAC tumorigenesis is largely unknown.
Purpose of the Study:
- Investigate the landscape of somatic gene fusions in cPAC.
- Identify oncogenic fusions with therapeutic potential.
- Understand the role of gene fusions in cPAC development and their relation to human lung cancer.
Main Methods:
- RNA sequencing (RNA-seq) analysis of 36 primary cPAC samples.
- Identification and characterization of somatic gene fusions.
- Analysis of gene expression and pathway activation (HER2, PTEN).
Main Results:
- NRG1 gene fusions, including recurrent SDC4::NRG1, were identified in cPAC.
- NRG1 fusions activate HER2 signaling and are mutually exclusive with HER2 gene alterations.
- Novel fusions disrupting the PTEN tumor suppressor pathway were discovered.
- Similar NRG1 fusions were found in human non-small cell lung adenocarcinoma.
Conclusions:
- NRG1 fusions are significant drivers of cPAC, converging on HER2 pathway activation.
- Disruptions in the PTEN axis present additional therapeutic targets in cPAC.
- Fusion-driven mechanisms are crucial in cPAC tumorigenesis, offering insights for comparative oncology and human lung cancer treatment.
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