Abstract Library

#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,

#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,

#4150 Uncovering the role of netrins and DCC (deleted in colorectal cancer) in pancreatic neuroendocrine neoplasms (PNEN) tumorigenesis

Introduction: DCC functions as a tumor suppressor and is altered in various tumors, including neuroendocrine neoplasms. Netrin (NTN)-1 serves as the primary ligand for DCC. Operating as a dependence receptor, DCC induces apoptosis without NTN and promotes cell survival in its presence. In some cancers like small cell lung cancer and neuroblastoma, upregulation of NTN-3 rather than NTN-1 has been observed. However, the precise involvement of NTNs and DCC in PNEN remains unclear.

Conference:

Presenting Author: Sela Peremen L

Authors: Sela Peremen L, Telerman A, Peshes Yaloz N, Tirosh A,

Keywords: neuroendocrine, netrin, pancreatic neuroendocrine tumor, dcc,

#4124 Evaluating a possible association between promoter methylation level of genes encoding catecholamine metabolizing enzymes and metanephrine secretion in pheochromocytoma and paraganglioma

Introduction: Paragangliomas (PPGLs) are rare neuroendocrine tumors that may secrete catecholamines and their metabolites (metanephrines [MN], normetanephrine [NMN]). Secretion patterns differ by adrenal/extra-adrenal origin and genetic alteration. Catecholamines synthesis is carried by phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH), aromaticL-aminoacid decarboxylase (AADC), dopamine β-hydroxylase (DBH) and phenylethanolamine N-methyltransferase (PNMT). However, their regulation in PPGL is not entirely understood.

Conference:

Presenting Author: Tirosh A

Authors: Kaplinsky A, Halperin R, Shlomai G, Tirosh A,

Keywords: ppgl, methylation, catecholamine, pseudohypokia, metanephrine, kinase signaling, pheochromocytoma, paraganglioima,

#3817 Mid-treatment response to 177Lu-DOTATATE – A possible estimate for final outcome in patients with neuroendocrine neoplasms

Introduction: Patients with advanced or unresectable neuroendocrine neoplasm (NENs) have limited systemic treatment modalities. Among the patients receiving peptide receptor radionuclide therapy (PRRT) treatment with 177Lu-DOTATATE, a subset will require further chemotherapy in later stages. Hence, limiting radiation exposure is of paramount importance. However, there are no mid-term predictive factors for response to PRRT.

Conference:

Presenting Author:

Authors: Halperin R, Tirosh A,

Keywords: PRRT, predictive factor, response, peptide receptor radionuclide therapy, efficacy, well-differentiated,