Abstract Library

#2986 Characterization of 142 Human Pancreatic Neuroendocrine Tumors: ATRX and DAXX Correlation with Clinical-Pathological Data

Introduction: Pancreatic neuroendocrine tumors (PNETs) are rare and heterogeneous neoplasms with a 10-year survival rate less than 30%. Up to 43% of them are driven by inactivating mutations in ATRX or DAXX. These are important players at chromatin remodeling, that when mutated prone cancer cells to initiate the alternative lengthening of telomeres (ALT). ALT phenotype correlates with in situ loss of expression of the proteins ATRX or DAXX and can be corroborated by telomere-FISH.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: Gaspar T, Pinheiro J, Canberk S, İnce �, Tokat F,

Keywords: pancreas, pancreatic neuroendocrine tumors, PNETs, ATRX, DAXX, ALT, mosaic,

#2093 Genetic Analysis Identifies Subgroups of Small Well-Differentiated Pancreatic Neuroendocrine Tumors with Different Risk for Liver Metastases

Introduction: Small size well-differentiated pancreatic neuroendocrine tumors (PanNETs) behave non-aggressively. However, a limited subset progresses with liver metastases.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Pea A

Authors: Pea A, Yu J, Marchionni L, Noe M, Luchini C,

Keywords: genetic, small tumors, metastases, ALT,

#1186 Significance of ATRX/DAXX Expression and Alternative Lengthening of Telomeres in Insulinomas and Neuroendocrine Tumors of Small Intestine.

Introduction: ATRX and DAXX mutations associated with alternative lengthening of telomeres ( ALT) phenotype have been shown as one of the major altered pathways in pancreatic neuroendocrine tumors (PanNET).

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author:

Authors: Neumayer B, Normand L, Hoffmeister M, Friemel J, Perren A,

Keywords: DAXX, ATRX, Alternative lengthening of telomeres, neuroendocrine tumor, Insulinoma,

#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,