Abstract Library

#4353 Familial inactivating glucagon receptor mutation resulting in pancreatic neuroendocrine tumours with metastatic potential, somatic MEN1 mutations, and a heterozygous phenotype

Introduction: Homozygous pathogenic glucagon receptor (GCGR) mutations cause a syndrome with pancreatic glucagon cell hyperplasia and neoplasia (GCHN) associated with Mahvash disease. This is an exceptionally rare autosomal recessive hereditary pancreatic neuroendocrine tumour (panNET) syndrome, with approximately ten cases documented in the literature.

Conference:

Presenting Author: Kuiper J

Authors: Kuiper J, de Herder W, Brahim Y, van Velthuysen M, Brosens L,

Keywords: glucagon receptor mutation, mahvash disease, glucagon cell hyperplasia and neoplasia, pancreatic neuroendocrine tumour, MEN1,

#3971 Clinical manifestation and aggressiveness of duodenopancreatic neuroendocrine tumors (DP-NET) in patients with MEN1 syndrome: A possible role of exon 2 mutations in menin gene

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by co-occurrence of primary hyperparathyroidism (PH), duodenopancreatic neuroendocrine tumors (DP-NET) and/or pituitary adenomas without an established genotype-phenotype correlation.

Conference:

Presenting Author: Benevento E

Authors: Benevento E, Liccardi A, Minotta R, Cannavale G, Di Iasi G,

Keywords: Multiple endocrine neoplasia type 1 (MEN1), exon two, genomic, primary hyperparathyroidism, duodenopancreatic neuroendocrine tumor, DP-NET, pituitary adenomas,

#3790 Pancreatic neuroendocrine tumors (pNETs) in French VHL mutation carriers – A nationwide retrospective study with genotype-phenotype correlations

Introduction: Von Hippel-Lindau disease (VHL) is a rare inheritable syndrome predisposing to pancreatic neuroendocrine tumors (pNETs). The natural history of VHL-related pNETs is ill-known.

Conference:

Presenting Author:

Authors: Muller M, Hammel P, Sauvanet A, Couvelard A, Vullierme M,

Keywords: hereditary neoplastic syndrome, von Hippel-Lindau disease, VHL gene, pancreatic neuroendocrine tumor,

#3662 Nothing but NET? Neuroendocrine tumors in multiple endocrine neoplasia 4

Introduction: Multiple endocrine neoplasia 4 (MEN4) is a rare multi-neoplasia syndrome caused by a germline pathogenic variant in CDKN1B gene, encoding p27, a cell-cycle regulator. MEN4 manifestations include primary hyperparathyroidism (PHPT), pituitary adenomas (PitAd), and neuroendocrine neoplasms (NEN). The characteristics of MEN4-NENs have not been thoroughly characterized thus far.

Conference:

Presenting Author:

Authors: Halperin R, Arnon L, Nasirov S, Friedensohn L, Gershinsky M,

Keywords: MEN4, CDKN1B, lifetime risk, genotype-phenotype, multiple endocrine neoplasia,

#3133 Establishment of neuroendocrine neoplasms organoid biobank enables genotype-phenotype mapping

Introduction: Gastroentero-pancreatic (GEP) neuroendocrine neoplasm (NEN) that consists of neuroendocrine tumor (NET) and neuroendocrine carcinoma (NEC) is a lethal but under-investigated disease owing to its rarity. Incidence of this disease is recently increasing, and novel treatment is warranted. However, the establishment and application of GEP-NEN disease models have been limited.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Kawasaki K, Fujii M, Kudo A, Kanai T, Nakagawa H,

Keywords: organoids, CRISPR-Cas9, multi-omics analysis, gastrinoma, MiNEN,