Abstract Library

#2739 Epigenetic Landscape of Pancreatic Neuro-Endocrine Tumors Reveals Distinct Cells of Origin and Means of Tumor Progression

Introduction: Pancreatic Neuroendocrine Tumors (PanNETs) arise from cells of the Islets of Langerhans. The majority of PanNETs are non-functional and their cell of origin cannot be defined analysing specific hormone production. Cell of origin assessment has proven importance to identify risk factors, prevent tumour development, and tailor treatment in many malignancies. Recent data on super-enhancer signatures has suggested a potential origin of PanNET from α- or β-cells. We and others have shown that distinct epigenetic profiles assessed by DNA methylation (DNAme) characterize genomic and prognostic groups of PanNET.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Di Domenico A

Authors: Di Domenico A, Pipinikas C, Maire R, Bräutigam K, Vassella E,

Keywords: cell of origin, alpha, beta, methylation, expression, epigenetic, neuroendocrine, progression, PanNET, tumor,

#2128 Epigenetic Changes in DAXX and/or ATRX Negative Pancreatic Neuro-Endocrine Tumors

Introduction: The most commonly mutated genes in Pancreatic Neuroendocrine Tumors (PanNETs) are MEN1, DAXX and ATRX, which encode for proteins involved in epigenetic regulation. DAXX/ATRX mutated PanNETs are globally hypomethylated and behave clinically in a more aggressive way. Tumor pathways associated with these changes are still unclear. We hypothesize that DAXX/ATRX and MEN1 mutations mediate PanNET progression via epigenetic dysregulation.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Di Domenico A

Authors: Di Domenico A, Pipinikas C, Simillion C, Wiedmer T, Maire R,

Keywords: methylation, expression, miRNA, epigenetic, PanNETs, neuroendocrine, tumors, MEN1, DAXX, ATRX, progression,

#1442 Somatic Variant Detection in Circulating Cell-Free Plasma DNA of Patients with Pancreatic Neuroendocrine Tumours

Introduction: Cell-free DNA (cfDNA) as a type of “liquid biopsy” represents an attractive alternative to tissue sampling for detecting tumour-specific changes (circulating tumour DNA; ctDNA).

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Pipinikas C

Authors: Pipinikas C, Gutteridge A, Forshew T, Childs A, Meyer T,

Keywords: ctDNA, PNET,

#1227 Molecular Profiling of Small Intestinal Neuroendocrine Tumours (SINETs)

Introduction: Aberrant DNA methylation plays an role in the pathogenesis of many cancers, however little is known about its role in SINET development.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Thirlwell C

Authors: Karpathakis A, Feber A, Morris T, Dibra H, Pipinikas C,

Keywords: Epigenetics, methylation, GIPR, biomarker,