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An Orthotopic Resectional Mouse Model of Pancreatic Cancer
Published on: September 24, 2020
Homologous recombination deficiency in pancreatic neuroendocrine tumors
Camilla Bardasi1, Elena Tenedini2,3, Lia Bonamici3
1Division of Oncology, Department of Oncology & Hematology, University Hospital of Modena, Modena, Italy.
Abstract:
Aim: Pancreatic Neuroendocrine tumors (pNETs) are a heterogeneous group of neoplasms whose tumor biology is still little known. Thanks to next-generation sequencing, pathogenic mutations in base-excision-repair MUTYH gene and homologous recombination genes CHEK2 and BRCA2 seem to have a role in the development of pNETs.Research design & methods: We assumed that Homologous Recombination Deficiency (HRD) could be a critical pathogenetic mechanism for pNETs. We evaluated the HR status in a case series of 33 patients diagnosed with pNET at the Modena Cancer Center using the AmoyDX HRD Focus assay.Results: The AmoyDx test did not identify any HRD-positive patients (median GSS equal to 1.1, positive score: >50), and no pathogenic BRCA variants were detected. However, thanks to the SNP analysis, a consistent number of partial or complete single-copy deletions or duplications in several chromosomes.Conclusion: The AmoyDX HRD focus assay performed well on pancreatic samples, despite being originally designed for ovarian cancer and used on samples stored for over a year. Larger studies are needed to further assess the role of HRD assays in pNETs research.
Insights
Homologous Recombination Deficiency (HRD) assays showed no positive cases in pancreatic neuroendocrine tumors (pNETs). However, the study suggests further research into HRD assays for pNETs, despite technical successes.
Area of Science:
- Oncology
- Genetics
Background:
- Pancreatic neuroendocrine tumors (pNETs) are a heterogeneous group with incompletely understood tumor biology.
- Pathogenic mutations in base-excision-repair (MUTYH) and homologous recombination (CHEK2, BRCA2) genes are implicated in pNET development.
Purpose of the Study:
- To investigate the potential role of Homologous Recombination Deficiency (HRD) as a pathogenetic mechanism in pNETs.
- To evaluate the HR status in a series of pNET patients using a commercially available HRD assay.
Main Methods:
- A case series of 33 patients with pNETs was analyzed.
- The AmoyDX HRD Focus assay was utilized to assess HR status.
- Single nucleotide polymorphism (SNP) analysis was performed.
Main Results:
- The AmoyDx HRD Focus assay did not identify any HRD-positive patients, with a median genomic stability score (GSS) of 1.1 (positive threshold >50).
- No pathogenic BRCA variants were detected in the cohort.
- SNP analysis revealed partial or complete single-copy deletions/duplications in several chromosomes.
Conclusions:
- The AmoyDX HRD Focus assay demonstrated good performance on pancreatic tissue samples, even those stored for over a year and designed for ovarian cancer.
- Larger studies are necessary to fully elucidate the role of HRD assays in pNET research and clinical application.
