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,

#856 DAXX and ATRX Loss Defines Chromosomal Instability and Poor Outcome in Pancreatic NET

Introduction: Chromosomal Instability (CIN) has been reported in pancreatic neuroendocrine tumors (pNETs) with poor outcome. However, no specific genetic background has been associated with CIN. Whole exome sequencing revealed mutations in DAXX (Death domain associated protein gene) and ATRX (ATR-X gene) in 40% of pNETs. DAXX and ATRX mutations in pNETs are associated with Alternative Lengthening of Telomeres (ALT) activation.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

Authors: Marinoni I, Schmitt A, Vassella E, Dettmer M, Rudolph T,

Keywords: pNET, Daxx, Atrx, ALT, CIN,