Abstract Library

#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,

#4384 The efficacy of combination of temozolomide and capecitabine for neuroendocrine tumours: A real-world comparison of outcomes in Alberta, Canada – Patients treated from 2011-2021

Introduction: The combination of capecitabine and temozolomide (CAPTEM) showed PFS benefits in pancreatic neuroendocrine tumours (PNETs).

Conference:

Presenting Author:

Authors: Aleksi A, Malek H, Husi P, Halperin H, White-Gloria C,

Keywords: captem, neuroendocrine tumour, endocrine tumour, progression-free survival, overall survival,

#4312 Developing innovative, genetically modified, proliferation-regulated patient-derived models representing human well-differentiated GEP-NETs for drug screening

Introduction: The slow-growing nature of gastroenteropancreatic neuroendocrine tumours (GEP-NETs) has limited the development of clinically relevant models, hindering the discovery in the field.

Conference:

Presenting Author: Zuo X

Authors: Zuo X, Liu Y, Maxwell J, Halperin D, Dasari A,

Keywords: Well-Differentiated Gastroenteropancreatic Neuroendocrine Tumour, Patient-Derived Cancer Model, Doxycycline-Controlled Genetic Modification, Drug Screening,

#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,