Homologous Recombination Deficiency in Pancreatic Neuroendocrine Tumors

Overview

Journal Future Oncol

Specialty Oncology

Date 2024 Nov 25

PMID 39582314

Authors

Camilla Bardasi

Elena Tenedini

Lia Bonamici

Stefania Benatti

Luca Reggiani Bonetti

Gabriele Luppi

Laura Cortesi

Enrico Tagliafico

Massimo Dominici

Fabio Gelsomino

Affiliations

Soon will be listed here.

Abstract

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 gene and homologous recombination genes and seem to have a role in the development of pNETs. 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. The AmoyDx test did not identify any HRD-positive patients (median GSS equal to 1.1, positive score: >50), and no pathogenic variants were detected. However, thanks to the SNP analysis, a consistent number of partial or complete single-copy deletions or duplications in several chromosomes. 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.

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