Abstract Library

#3062 The Splicing Factor CELF4 Is Dysregulated in Neuroendocrine Tumors, Where It Can Enhance Aggressiveness Features

Introduction: There is increasing evidence that alterations in alternative splicing are linked to key tumor features in different cancers. Besides mutations, dysregulation of the splicing machinery would represent the main underlying cause for these alterations. Indeed, splicing dysregulation is emerging as a novel, transversal cancer hallmark, due to its association with multiple dysfunctions in tumor cells.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Alors-Pérez E

Authors: Alors-Pérez E, Pedraza-Arévalo S, Vázquez-Borrego M, Blázquez-Encinas R, Herrera-Martínez A,

Keywords: PanNET, CELF4, splicing, aggressiveness, pituitary tumors,

#3007 An mRNA-based Classifier Identifies PanNETs with Different Clinicopathological Characteristics

Introduction: Pancreatic neuroendocrine tumors (PanNETs) are a heterogeneous group of neoplasms that varies from indolent to highly aggressive diseases. Previous studies have suggested alterations of ATRX/DAXX as biomarkers of dismal prognosis, yet inconclusive data (especially in the metastatic setting) prevent those biomarkers to be used as routine clinical tests.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: Vicentini C, Barbi S, Bersani S, Rusev B, Lawlor R,

Keywords: PanNET, gene expression profile, ATRX/DAXX mutations, patients’ stratification.,

#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,

#2982 Comprehensive Molecular Analysis Identifies Driver Mutations in Metastases of Sporadic Well-Differentiated Neuroendocrine Tumours of the Small Intestine

Introduction: Small intestinal neuroendocrine tumours (SI-NETs) represent a heterogenous group of tumours. The molecular mechanisms which contribute to progression of SI-NETs are poorly elucidated. They are considered to be molecularly distinct from neuroendocrine carcinomas (NECs), which share oncogenic pathways with adenocarcinomas.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Samsom K

Authors: Samsom K, van Veenendaal L, Roepman P, Kodach L, Steeghs N,

Keywords: whole genome sequencing, neuroendocrine tumour, small intestine, genetics,

#2972 Characteristics and Management of Paragangliomas, 10 Years Experience

Introduction: Paraganglioma (PG) is a rare extra-adrenal neuroendocrine tumor, with common sites of presentation being abdomen, and head and neck region. The majority of PGs appear to be sporadic. However, almost half of cases are associated with an inherited syndrome. The highest malignancy rates are seen in paragangliomas (PGs) associated with SDHB mutations, which are usually abdominal and secretory.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: Sardo E, Cameselle-Garcia S, Casteras A, Toledo R, Acosta D,

Keywords: Paraganglioma, SDHB mutations, Functioning Tumors,