Abstract Library

#4659 Current role of systemic lanreotide therapy of patients with advanced, unresectable, non-metastatic paraganglioma / pheochromocytoma (PPGL) sporadic and hereditary

Introduction: Retrospective, performed in prospective manner single-arm, open-label, case series study to assess the efficacy of lanreotide in patients with unresectable, non-metastatic paraganglioma / pheochromocytoma (PPGL) spontaneous or germline mutations.

Conference:

Presenting Author:

Authors: Kolasińska-Ćwikla A, Pęczkowska M, Michałowska I, Pałucki J, Roszkowska-Purska K,

Keywords: Paraganglioma / pheochromocytoma (PPGL) spontaneous or germline mutations, Lanreotide therapy, fractionated metoxycatecholamines,

#4550 The relationship between MEN1 germline mutations and SSTR2 expression in neuroendocrine tumours

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disease characterised by the development of multiglandular parathyroid disease, pituitary tumours, and duodenopancreatic neuroendocrine tumours (NETs). Germline mutations in the tumour suppressor gene MEN1 are the underlying cause. Somatostatin receptor 2 (SSTR2) is commonly expressed by NETs. However, the expression of SSTR2 in patients with MEN1 remains unclear.

Conference:

Presenting Author: Chi Y

Authors: Sun Y, Tan H, Wang H, Shi S, Dong L,

Keywords: multiple endocrine neoplasia type 1, somatostatin receptor 2, neuroendocrine 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,

#4317 Late diagnosis of MEN2A syndrome: Ten cases in one family

Introduction: Multiple endocrine neoplasia type 2 (MEN2) constitutes a rare hereditary cancer syndrome affecting various endocrine glands.

Conference:

Presenting Author:

Authors: Asanova A, Shutova A, Dzeranova L, Przhiyalkovskaya E, Pigarova E,

Keywords: MEN2A, RET, MTC, THYROIDECTOMY,