Mutational profiling of pNETs and pNECs indicates implication of chromatin epigenetic modification

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Introduction: Pancreatic neuroendocrine neoplasms (pNENs) are classified as carcinomas (pNECs), and tumors (pNETs). Their handling is challenging and understanding their carcinogenesis process including genetic-epigenetic relations is crucial for their clinical management.

Aim(s): To explore the variability in mutational profile between pNETs and pNECs.

Materials and methods: Study cohort consisted of 6 pNETs and 4 pNECs (WHO 2019 Tumor classification). DNA was extracted from FFPE tissue and proceeded to Next Generation Sequencing (NGS) using TruSight Oncology 500 assay. Detected variants were filtered for a mutational allele frequency >5% and identified as “pathogenic”, “variant of unknown significance,” or “benign,” according to the ACMG standards based on ClinVar or Varsome platforms. Pathway enrichment analysis was performed using Cytoscape plugin ClueGO/CluePedia search tool.

Conference:

Presenting Author: Angelioudaki I

Authors: Angelioudaki I, Koniaris E, Kataki A, Loukas Y, Thodi G,

Keywords: Neuroendocrine Tumor, Neuroendocrine Carcinoma, Pancreas, Next Generation Sequencing, Epigenetics,