Abstract Library

#1253 A Novel Hereditary Pancreatic Neuroendocrine Tumor Syndrome Associated with Biallelic Inactivation of the Glucagon Receptor

Introduction: Hereditary pancreatic neuroendocrine tumors (PanNETs) are associated with 4 known autosomal dominant syndromes including MEN1, vHL disease, NF1, and TS. Glucagon receptor (GCGR) inactivation in human (Mahvash disease) has been associated with asymptomatic hyperglucagonemia, α-cell hyperplasia, and PanNET, and may represent a new hereditary syndrome.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Tang L

Authors: Tang L, Yu R,

Keywords: Hereditary PanNET,

#985 Periampulary and Pancreatic Neuroendocrine Neoplasms with Duodenal Stromal Gastrointestinal Tumors in Patients with Type 1 Neurofibromatosis: Two Case Reports

Introduction: We describe two cases of neuroendocrine tumors (NETs) in patients with neurofibromatosis type 1 (NF1) associated with gastrointestinal stromal tumors (GISTs).

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author: Zerbi A

Authors: Ridolfi C, Gavazzi F, Spaggiari P, Carnaghi C, Lania A,

Keywords: pancreatic and ampullary neuroendocrine tumor, neurofibromatosis-1, GIST,

#944 Pheochromocytoma and Paraganglioma in Pediatric Age

Introduction: Pheochromocytoma (PHE) and paraganglioma (PGL) are rare tumors of the adrenal medulla and extra-adrenal sympathetic chromaffin tissue. Nearly 30% of them are familiar or associated with genetic syndromes (VHL, MEN2, NF1, SDH mutation, Pacak-Zhuang). Only 20% PHE occur before 20 years of age. Incidence of pediatric PHE is 0.3:1 million.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author: Bajciova V

Authors: Bajciova V, Kren L, Vicha A,

Keywords: pheochromocytoma, paraganglioma, pediatric age,

#861 Targeted Next Generation Sequencing in the Screening for Familial Neuroendocrine Tumor Syndromes: A Tool for Personalized Medicine

Introduction: Multiple syndromes are described as conferring susceptibility to NETs; MEN1 & 2, NF1, familial PGL 1-5, TSC, VHL and germline mutations in the HIF2A, MAX, or TMEM127. Genetic testing covering these diagnoses may be extensively resource-demanding using traditional techniques due to the large extent of these loci.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

Authors: Crona J, Stålberg P, Granberg D, Welin S, Hellman P,

Keywords: neuroendocrine tumor, genetics ,

#701 High Expression of Mammalian Target of Rapamycin (mTOR) in NF1-Related Periampullary Neuroendocrine Tumors

Introduction: Neurofibromatosis type 1 (NF1) is a rare inherited disorder associated with cutaneous lesions and neoplasms in the nervous and gastroenteropancreatic systems, including periampullary NETs. NF1-coded protein, neurofibromin, is a tumor suppressor that negatively regulates the mammalian target of rapamycin (mTOR). Preclinical in vitro and in vivo studies demonstrated a constitutive activation of mTOR pathway associated with significant antineoplastic effects of mTOR inhibitors in NF1-related glial tumor models.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author: Razzore P

Authors: Razzore P, Volante M, Russolillo N, Motta M, Lacidogna G,

Keywords: NF1, periampullar NETs, mTOR ,