Abstract Library

#1906 High Prevalence of the c.1546delC Germline Mutation in MEN1 Pancreatic Neuroendocrine Tumors

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease predisposing to pancreatic neuroendocrine neoplasms (NENs). Even though its genetics is relatively well known, specific phenotype-genotype correlations remain unproven at present. The Region of Murcia in southeast Spain is one of the areas with the highest incidence of MEN1

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: Marín Zafra G

Authors: Marín Zafra G, Carmona-Bayonas A, Segura Luque P, Rodríguez González J, Tebar Massó J,

Keywords: MEN1 genetics,

#1438 An Unusual Phenotype of Multiple Endocrine Neoplasia Type 1 with a Small Intestine Neuroendocrine Tumor Associated with Large Deletion of the MEN1 Gene

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome that is caused by germline mutations in the Menin suppressor gene on chromosome 11q13. Small intestine neuroendocrine neoplasias (SI-NEN) are currently not considered to be part of the phenotype of the MEN1-syndrome.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author:

Authors: Manoharan J, L. Lopez C, Hackmann K, Albers M, Pehl A,

Keywords: MEN1, Deletion mutation, SI-NEN,

#1207 A Novel MEN1 Gene Variant in a Sporadic Case of Multiple Endocrine Neoplasia Type 1

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of hyperparathyroidism, pituitary adenomas and duodeno-pancreatic neuroendocrine tumours (NETs). Germline mutations of the MEN1 gene are identified in up to 87% of MEN1 families and 82% of isolated MEN1 cases.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Iacovazzo D

Authors: Iacovazzo D, Piacentini S, Lugli F, Bianchi A, Gabrovska P,

Keywords: MEN1, mutation, gastric carcinoid,

#1167 Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

Introduction: Cowden Syndrome is a multiorgan disorder with germline mutations in the tumor suppressor gene PTEN leading to dysfunctional cell growth and risk of neoplasms in e.g. breast and thyroid, but no association with NET has been described.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Ringholm L

Authors: Ringholm L, Langer S, I Dali C, Petersen R, Rasmussen A,

Keywords: Cowden Syndrome, pulmonary NET,

#1131 M-TORC1 Complex Is Significantly Over-Activated in SDHx-Mutated Paragangliomas

Introduction: The activation patterns of mTOR pathway in sporadic and hereditary pheochromocytomas (PCC) and paragangliomas (PGL) are poorly recognized.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Volante M

Authors: Oudijk L, Papathomas T, De Krijger R, Gimenez-Roqueplo A, Mannelli M,

Keywords: PCC, PGL, mTOR, SDHx,