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,

#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,

#4256 Epigenetic prediction of aging and metabolic traits provides insight into tumor biology in multi-focal ileal neuroendocrine tumors

Introduction: Approximately half of small intestinal neuroendocrine tumors (siNETs) are multifocal, and recent investigations into the genetic architecture of these tumors have found that they are not clonal. Due to the low mutational rate and slow growing nature of these small tumors, the ‘timing’ of the development of individual tumors has not been possible.

Conference:

Presenting Author:

Authors: Webster A, Makinen N, Ecker S, Beck S, Nakakura E,

Keywords: DNA methylation, Epigenetics, Multifocal Ileal Neuroendocrine Tumor, Multifocal Small Instestinal NET, Metabolic Traits,

#4041 Mesenteric fibrosis in small intestinal neuroendocrine tumors (SI-NETs): Pathogenesis and therapeutic targets

Introduction: Mesenteric fibrosis (MF) affects up to 50% of small intestine neuroendocrine tumor (SI-NET) patients, causing significant morbidity and mortality. MF pathophysiology is poorly understood, limiting treatment development and biomarker identification.

Conference:

Presenting Author:

Authors: Castanho Martins M, Hodgetts H, Lemos Dias M, Luong T, Hall A,

Keywords: fibrosis, small intestine, 3D model, cell crosstalk, microenvironment, cancer-associated fibroblast,

#3961 Enhancer heterogeneity of lung carcinoids reveals sensitivity to FGF signaling inhibition

Introduction: Well-differentiated low grade lung carcinoids are histo-pathologically classified as typical and atypical, but each subtype is still heterogenous both at the molecular level and its clinical manifestation. Therefore, the treatment of these patients is challenging. The two main challenges are the lack of effective drug treatments and the lack of reliable biomarkers to guide management since the disease in patients with the same tumor grade/stage often has different clinical courses. The genetic, epigenetic, and developmental programs that drive lung carcinoids remain obscure, limiting our abilities to suggest new biomarkers and drug targets.

Conference:

Presenting Author: Drier Y

Authors: Davis E, Avniel-Polak S, Hecht M, Grozinsky-Glasberg S, Drier Y,

Keywords: FGF Signaling, Lung carcinoids, Enhancers,