Abstract Library

#4583 Improved assessment of gene rearrangements by targeting non-coding DNA regions in patients diagnosed with pancreatic neuroendocrine neoplasms

Introduction: Whole-genome sequencing projects documented the heterogeneity of pancreatic neuroendocrine neoplasms (PanNEN), while showing that few core pathways are consistently affected in their tumorigenesis. Comprehensive genomic profiling (CGP) of real-world cases is expected to recapitulate such heterogeneity for patient stratification and to inform precision therapy. While coding DNA is the focus of current CGP panels, the potential of targeting non-coding DNA (ncDNA) to improve structural variants detection has not been widely explored in this context.

Conference:

Presenting Author: Agnoletto C

Authors: Agnoletto C, Trevisani E, Borghesani M, Landoni L, Luchini C,

Keywords: neuroendocrine, non-coding DNAs, structural variants, clinical relevance, CGP panel,

#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,

#4380 Cell-free DNA concentration correlates with copy number variant (CNV)-count, describes tumour progression and nuclear instability in GEP-NETs

Introduction: Cell-free DNA (cfDNA) levels depend on various factors related to the shedding of cells and might provide valuable information on tumour state and treatment success. In a genomic profiling pilot study conducted as part of the COMPOSE Phase III multicentre open-labelled clinical trial we assessed multiple factors and their impact on cfDNA levels in 14 GEP-NET patients.

Conference:

Presenting Author: Srirajaskanthan R

Authors: Srirajaskanthan R, Capdevila J, Smutna V, Weckwerth W, Erdoe M,

Keywords: CNV, cfDNA, liquid biopsy, quantitative marker, cfDNA concentration, longitudinal, GEP-NET, genomic profiling,

#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,

#4139 Characterisation of new biomarkers from patients with neuroendocrine cancer using liquid biopsy methods

Introduction: Neuroendocrine tumors originate from neuroendocrine cells. Clinicians diagnose and track these tumors not only but also by analysing patients' blood for biomarkers. Including liquid biopsy in early detection and monitoring can improve patient outcomes.

Conference:

Presenting Author:

Authors: Pachnikova G, Jann H, Tacke F, Keilholz U,

Keywords: liquid biopsy, circulating tumor cells, cell-free DNA, neuroendocrine tumor, case study, copy number variations,