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,

#4604 Germline predisposition to neuroendocrine tumours of the pancreas (pNEN) based on mutations in DNA repair genes – BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11

Introduction: Neuroendocrine tumours of the pancreas (pNEN) rank as the second most common epithelial neoplasms after pancreatic adenocarcinoma, with increasing prevalence and a mortality rate of 60%. Identifying germline mutations in DNA repair genes such as CHEK2, BRCA1/2, and MUTYH within pNEN cases may pave the way for personalised diagnostics and therapies.

Conference:

Presenting Author:

Authors: Jurecka Lubieniecka B, Ros-Mazurczyuk M, Oczko-Wojciechowska M, Cortez A, Handkiewicz-Junak D,

Keywords: pNEN, DNA repair genes,

#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,

#4465 RET Lys666Asn has low MEN2-related tumours penetrance but may be associated with pheochromocytoma

Introduction: Multiple Endocrine Neoplasia type 2 (MEN2) is caused by germline pathogenic variants (PVs) in the RET proto-oncogene, leading to medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism (PHPT). RET c.1998G>C, p.Lys666Asn is a rare PV, with 33 cases described thus far, and is associated with low penetrance of MEN2-related tumours, but its clinical significance remains incompletely understood.

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Peshes-Yaloz N, Tirosh A, Twito O,

Keywords: MEN2, pheochromocytoma, hyperparathyroidism, medullary thyroid carcinoma,