Abstract Library

#4616 Clinical characterisation of patients with familial midgut neuroendocrine tumours (FM-NETs) based on a comparison with the large population-based GTE/RENATEN cohort

Introduction: The clinical specificities of FM-NET have been poorly described.

Conference:

Presenting Author: Hunaut T

Authors: Hunaut T, Hercent A, Walter T, Buecher B, Lepage C,

Keywords: Small intestine neuroendocrine tumour, Familial carcinoid tumour,

#4468 Prevalence of familial pheochromocytoma and paraganglioma syndromes – A large multicentre study

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare tumours. Depending on the studied population, approximately 30% of PPGLs are caused by a germline pathogenic variant (PV).

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Reznick-Levi G, Khalaileh A, Svirsky-Frayden R, Reish O,

Keywords: paraganglioma, pheochromocytoma, genetic evaluation, catecholamine, sdhb, vhl,

#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,

#4224 Uncommon manifestations in type 4 familial paraganglioma syndrome – A large cohort of patients harbouring the SDHB p.Q214Ter variant

Introduction: Familial paraganglioma type 4 syndrome (PPGL4) is caused by a germline pathogenic variant (PV) in the SDHB gene. Patients harbouring germline SDHB PV have a higher risk of developing paragangliomas and pheochromocytomas. PPGL4 is considered a higher-risk syndrome for aggressive, and metastatic, abdominal-thoracic paragangliomas compared with other familial paraganglioma syndromes.

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Jabarin A, Tirosh A,

Keywords: paraganglioma, pheochromocytoma, sdhb, hereditary,

#4149 A case of multiple endocrine neoplasia type 1 (MEN1) phenotype caused by CDC73 mutation

Introduction: CDC73 gene, also known as HRPT2 gene, its related diseases (CDC73-Related Disorders) mainly include hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid adenocarcinoma, familial isolated hyperparathyroidism (FIHP), which is autosomal dominant inheritance.

Conference:

Presenting Author: Tan H

Authors: Tan H, Chi Y,

Keywords: CDC73, HPT-JT, PNET, phenotype,