Abstract Library

#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,

#4151 Identifying potential tumor drivers through integration of gene expression and DNA copy number in SI-NET

Introduction: The genetics of small intestine neuroendocrine tumors (SI-NETs) remains poorly understood. To date, only CDKN1B has been found recurrently mutated, in approximately 9% of cases. On the contrary, DNA copy number alterations are found in a majority of cases. The most frequent aberration is heterozygous loss of chromosome 18. In addition, loss of chromosome 11, and gains on chromosomes 4, 5 and 14 are common. The cellular mechanisms through which these alterations drive tumor development are unknown.

Conference:

Presenting Author: Backman S

Authors: Backman S, Barazeghi E, Norlén O, Hellman P, Stålberg P,

Keywords: SI-NET, RNA-Seq, Gene dosage, Haplo-insufficiency, Copy number,

#3422 Longitudinal copy number alteration analysis in plasma cell-free DNA of neuroendocrine neoplasms is a novel specific biomarker for diagnosis, prognosis and follow-up

Introduction: Research on liquid biopsies in neuroendocrine neoplasms (NENs) remains limited, despite the urgent need for new, preferably blood-based, biomarkers. Copy number alterations (CNAs) represent an important type of molecular alteration in NENs and are detectable in cell-free DNA (cfDNA).

Conference:

Presenting Author:

Authors: Mariën L, Boons G, Vandamme T, Lybaert W, Roeyen G,

Keywords: neuroendocrine neoplasm, liquid biopsies, circulating tumor DNA, biomarker, copy number alterations,

#3202 Plasma cell-free DNA from metastatic gastroenteropancreatic neuroendocrine neoplasms contains tumor-associated copy number alterations

Introduction: Recently, tumor-derived molecular alterations were detected in cell-free DNA (cfDNA) from gastroenteropancreatic neuroendocrine neoplasm (GEP-NEN) patients. In-depth evaluation of the biomarker potential of cfDNA is warranted, as better blood-based biomarkers are needed for GEP-NENs.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Boons G, Vandamme T, Lybaert W, Roeyen G, Rondou T,

Keywords: cell-free DNA, shallow whole-genome sequencing, gastroenteropancreatic neuroendocrine neoplasm, biomarker,

#2936 Mutational Landscape of 109 High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms G3

Introduction: Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) G3 are rare with a poor outcome. Molecular data for GEP NEN G3 is limited and the 2019 WHO classification is based on morphology and proliferation rate.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Elvebakken H

Authors: Venizelos A, Elvebakken H, Perren A, Hjortland G, Sundlöv A,

Keywords: molecular genetics, neuroendocrine carcinoma, neuroendocrine tumors, gastroenteropancreatic, mutations,