Abstract Library

#2902 DNA Methylation Analysis of the PDX1 Gene Can Be Used for PNET Subtyping and Has a Possible Prognostic Value

Introduction: Estimating prognosis of pancreatic neuroendocrine tumor (PNET) patients remains challenging. Mutation status of DAXX/ATRX/MEN1, histone modification patterns and immunohistochemistry for relevant transcription factors, including PDX1, were recently used to perform subtyping and distinguished two main types, A and B. These subtypes are linked to cell-of-origin and associated with clinical outcome.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: Boons G, Vandamme T, Ibrahim J, Schepers A, Roeyen G,

Keywords: Pancreatic Neuroendocrine Tumor, DNA Methylation, Prognostic Biomarker,

#2283 Ultra-Deep Targeted Resequencing Reveals Recurrent DAXX and CYFIP2 Mutations and Implicates Novel Pathways in Pancreatic Neuroendocrine Tumors

Introduction: Recent studies in pancreatic neuroendocrine tumors have identified mutations in DAXX/ATRX, MEN1, and genes involved in the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin (PI3K-Akt-mTOR) pathway. However, these studies focused on abundant mutations.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Vandamme T

Authors: Vandamme T, Beyens M, Van Camp G, Boons G, Hofland L,

Keywords: pancreatic neuroendocrine tumors, PNET, genetics, tumor heterogeneity, hotspot mutations,

#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,

#1780 PD-L1 Is Expressed in a Subset of Pancreatic Neuroendocrine Tumors (pNET)

Introduction: Programmed death 1 (PD-1) is an immune inhibitory receptor expressed on several immune cells, interacting with two ligands, PD-L1 and PD-L2. The former is expressed in many human cancers and is used as a selection criterion for indication of checkpoint inhibitor therapies. PD-L1 is also a potential target for checkpoint inhibitors in pNET therapy, however no data on prevalence of PD-L1 expression and potential associations to clinico-pathologic features is available.

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: Saganas C

Authors: Saganas C, Blank A, Franzelli M, Marinoni I, Perren A,

Keywords: neuroendocrine, tumors,

#1312 Epigenetic Remodeling upon DAXX and ATRX Loss in Pancreatic Neuro-endocrine tumors (pNETs)

Introduction: DAXX and or ATRX loss occur in 40% of sporadic pNETs. DAXX and ATRX participate in the cell epigenetic status maintenance. Epigenetic changes influence gene expression, function of telomeres and genomic stability. We hypothesize that DAXX/ATRX loss drives tumor progression in pNET through epigenetic changes affecting genomic stability.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author:

Authors: Marinoni I, Wiederkeher A, Pantasis S, Normand L, Wiedmer T,

Keywords: DAXX/ATRX, epigenetic, CIN,