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Fusion genes in pancreatic tumors
Anastasios Gkountakos1, Aatur D Singhi2, C Benedikt Westphalen3
1ARC-Net Research Center, University of Verona, Verona, Italy.
Abstract:
Gene fusions and rearrangements play a crucial role in tumor biology. They are rare events typically detected in KRAS wild-type (WT) pancreatic tumors. Their identification can inform clinical management by enabling precision oncology, as fusions involving BRAF, FGFR2, RET, NTRK, NRG1, and ALK represent actionable targets in KRAS-WT cancers, and serve diagnostic purposes since fusions involving PRKACA/B represent the diagnostic hallmark of intraductal oncocytic papillary neoplasms (IOPNs). Although they are rare, the therapeutic and diagnostic importance of these genomic events should not be underestimated, highlighting the need for quality-ensured molecular diagnostics in the management of cancer. Herein we review the existing literature on the role of fusion genes in pancreatic tumors and their clinical potential as effective biomarkers and therapeutic targets.
Insights
Gene fusions are rare in KRAS wild-type pancreatic tumors but offer vital therapeutic and diagnostic insights. Identifying these fusion genes enables precision oncology and aids in diagnosing specific pancreatic neoplasms.
Area of Science:
- Oncology
- Molecular Biology
- Genomics
Background:
- Gene fusions and rearrangements are significant in tumor biology, particularly in KRAS wild-type pancreatic cancers.
- These genomic alterations are often rare but hold substantial clinical implications.
Purpose of the Study:
- To review the literature on fusion genes in pancreatic tumors.
- To explore their clinical potential as biomarkers and therapeutic targets.
Main Methods:
- Literature review of existing studies on gene fusions in pancreatic cancer.
- Analysis of the diagnostic and therapeutic relevance of identified fusion genes.
Main Results:
- Fusion genes are key in KRAS wild-type pancreatic tumors, involving actionable targets like BRAF, FGFR2, RET, NTRK, NRG1, and ALK.
- Specific fusions, such as PRKACA/B, are diagnostic hallmarks for intraductal oncocytic papillary neoplasms (IOPNs).
Conclusions:
- The identification of fusion genes is critical for precision oncology and diagnosis in pancreatic cancer.
- Quality-assured molecular diagnostics are essential for leveraging the therapeutic and diagnostic value of these rare genomic events.
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