Catch-up on the series: NRG1 fusions testing
Thank you for joining us during our NRG1 fusions testing series!
Diaceutics organized a series of digital engagement activities focused on the clinical relevance of pathogenic gene fusions, specifically NRG1 fusions, for cancer patients.
One of the activities was the Lab Talk led by Dr. Kurt Schalper from Yale School of Medicine, which explored NRG1 testing in cancer patients. The session covered the clinical utility of NRG1 fusions as a poor prognostic factor across tumor types, exploring NRG1+ tumors’ metastatic potential and histological features. Dr. Kurt Schalper also approached the challenges for detecting NRG1 fusions, considering that conventional methods often fail to detect these fusions. Click here to watch the Lab Talk recording.
Key learnings from the series that can be implemented in routine diagnostics to ensure that patients with NRG1+ tumors are properly and timely identified:
- Pathogenic gene fusions are key oncogenic drivers and actionable biomarkers in precision oncology
- NRG1 fusions have been identified across many tumor types, with NRG1+ tumors being associated with aggressive features and poor outcomes in cancer patients
- Conventional methods like RT-PCR, FISH, and IHC may fall short of detecting pathogenic gene fusions and have limitations in screening NRG1 fusions
- Although NGS can detect a broad range of genomic alterations, DNA-based NGS alone can miss pathogenic gene fusions
- Comprehensive testing with RNA-based NGS, including both DNA and RNA sequencing, is recommended to capture these fusions that DNA-based NGS might miss
- The detection of NRG1 fusions is particularly difficult without RNA-based NGS due to the diversity of gene fusion partners, varying breakpoints, and large intronic regions
- Proper testing for pathogenic gene fusions is necessary to maximize the identification of potentially eligible patients to benefit from targeted therapies
- Poorer outcomes were observed in patients with pathogenic gene fusions who were not matched to an FDA-approved fusion-targeted therapy
- Ultimately, RNA-based NGS can enable oncologists to match eligible patients with targeted therapy to the driving fusion, which wouldn’t have otherwise been identified, potentially leading to improved outcomes