Abstract Library

#4516 A methylation-based classifier for neuroendocrine tumour detection using smMIP technology

Introduction: DNA methylation plays an important role in NET pathogenesis. Distinct methylation profiles can differentiate between tumour subtypes, predict malignancy potential, and provide insights into tumour progression.

Conference:

Presenting Author:

Authors: Ibrahim J, Mariën L, Vanpoucke T, Neefs I, Vandenhoeck J,

Keywords: neuroendocrine tumour, DNA methylation, biomarker selection, IMPRESS technology, classifier model,

#4505 NET-IMPRESS: A novel methylation-based assay to diagnose and monitor NET patients using liquid biopsies

Introduction: Previously, we showed that analysing copy number alterations (CNAs) in cell-free DNA (cfDNA) of NET patients using shallow whole genome sequencing (sWGS) is a potential biomarker for diagnosis and follow-up (PMID: 34759042). We now present NET-IMPRESS, an easy, cost-effective methylation-based assay for detecting circulating tumour DNA (ctDNA) in NET samples.

Conference:

Presenting Author:

Authors: Mariën L, Ibrahim J, de Meulenaere N, Chhajlani S, Neefs I,

Keywords: neuroendocrine tumour, liquid biopsy, DNA methylation, copy number alterations, biomarker selection, IMPRESS technology,

#4353 Familial inactivating glucagon receptor mutation resulting in pancreatic neuroendocrine tumours with metastatic potential, somatic MEN1 mutations, and a heterozygous phenotype

Introduction: Homozygous pathogenic glucagon receptor (GCGR) mutations cause a syndrome with pancreatic glucagon cell hyperplasia and neoplasia (GCHN) associated with Mahvash disease. This is an exceptionally rare autosomal recessive hereditary pancreatic neuroendocrine tumour (panNET) syndrome, with approximately ten cases documented in the literature.

Conference:

Presenting Author: Kuiper J

Authors: Kuiper J, de Herder W, Brahim Y, van Velthuysen M, Brosens L,

Keywords: glucagon receptor mutation, mahvash disease, glucagon cell hyperplasia and neoplasia, pancreatic neuroendocrine tumour, MEN1,

#4165 Detecting NET using Methylation-based biomarkers and the novel IMPRESS technology

Introduction: Due to current limitations, diagnosis of neuroendocrine tumors (NETs) is frequently delayed. Addressing this issue is crucial, necessitating the identification of new, adequate biomarkers. Our previous work highlighted the methylome as a promising source of biomarkers, enabling differentiation of NET vs. non-NET samples, and distinguishing based on tissue of origin (TOO).

Conference:

Presenting Author: Mariën L

Authors: Mariën L, Ibrahim J, Islam O, Chhajlani S, Neefs I,

Keywords: neuroendocrine tumor, DNA methylation, biomarker selection, IMPRESS technology,

#3876 Comprehensive characterization of the NET methylome

Introduction: The methylome holds great promise for biomarker discovery in neuroendocrine tumors (NETs), as changes in DNA methylation allow differentiation into relevant subgroups and reveal tissue of origin. However, a comprehensive characterization of the NET methylome is lacking, hampering biological insight and meaningful biomarker selection.

Conference:

Presenting Author: Mariën L

Authors: Mariën L, Ibrahim J, Cremers T, Lybaert W, Prenen H,

Keywords: neuroendocrine tumor, DNA methylation, pathway analysis, biomarker selection,