Abstract Library

#4604 Germline predisposition to neuroendocrine tumours of the pancreas (pNEN) based on mutations in DNA repair genes – BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11

Introduction: Neuroendocrine tumours of the pancreas (pNEN) rank as the second most common epithelial neoplasms after pancreatic adenocarcinoma, with increasing prevalence and a mortality rate of 60%. Identifying germline mutations in DNA repair genes such as CHEK2, BRCA1/2, and MUTYH within pNEN cases may pave the way for personalised diagnostics and therapies.

Conference:

Presenting Author:

Authors: Jurecka Lubieniecka B, Ros-Mazurczyuk M, Oczko-Wojciechowska M, Cortez A, Handkiewicz-Junak D,

Keywords: pNEN, DNA repair genes,

#4591 Efficacy of Trabectedin and Olaparib in homologous repair deficient neuroendocrine neoplasms – A subgroup analysis of the TOP-ART / PMO-1603 trial

Introduction: Genomic alterations resulting in homologous recombination deficiency (HRD) occur in a variety of cancers including neuroendocrine neoplasms (NEN). HRD-positive tumours are sensitive to PARP inhibitors such as olaparib. The DNA minor groove binder trabectedin leads to DNA double strand breaks and PARP activation. The combination of Trabectedin + Olaparib (TrO) may therefore have synergistic effects in HRD-positive tumours.

Conference:

Presenting Author: Apostolidis L

Authors: Apostolidis L, Ruebsam M, Teleanu M, Wagner S, Dorman K,

Keywords: Neuroendocrine Tumour, Neuroendocrine Carcinoma, targeted therapy, chemotherapy, HRD, olaparib, trabectedin, net, nec,

#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,

#4546 Epigenetic exploration of mesenteric fibrosis indicates epigenetic disruption of DAXX is driving metastatic potential in small intestinal neuroendocrine tumours

Introduction: Up to 50% of patients diagnosed with small intestinal neuroendocrine tumours (SI-NETs) are affected by mesenteric fibrosis (MF) which has significant pathological effects and impacts patient mortality.

Conference:

Presenting Author: Webster A

Authors: Webster A, Martins M, Hodgetts H, Feelders R, Hofland L,

Keywords: DNA methylation, SI-NET, Mesenteric fibrosis, Epigenetics, Gene regulation, DAXX,

#4544 Spatial and temporal intratumour heterogeneity of pancreatic neuroendocrine tumours (PanNET)

Introduction: Data derived from the study of intertumour heterogeneity have led to propose that PanNET evolution may start either from beta cells with good prognosis, or from alpha cells with sequential alterations of MDA (MENIN-DAXX/ATRX) leading to more aggressive lesions.

Conference:

Presenting Author: Awan Z

Authors: Awan Z, Bourdeleau P, Epée J, Ps H, Tihy M,

Keywords: Pancreatic neuroendocrine tumour, Heterogeneity, Tumour microenvironment,