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,

#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,

#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,

#4174 Uncovering the genomic profiling of metastatic pheochromocytomas and paragangliomas: Leveraging plasma circulating tumor DNA for comprehensive genetic characterisation and monitoring

Introduction: Liquid biopsy, notably plasma circulating tumor DNA (ctDNA), is a non-invasive approach to elucidate the tumoral genomic profile from a blood sample. Pheochromocytomas and paragangliomas (PPGL) are often operated, characterized by quiet genomes and usually indolent tumor growth. However, challenges arise with metastatic tumors due to accessibility, catecholamine-related crises and surgery issues. Thus, molecular mechanisms transitioning from indolent to metastatic tumors are largely unexplored.

Conference:

Presenting Author:

Authors: Arenillas Lallana C, Moreno-Cárdenas A, Casteràs A, García-Álvarez A, Hernando J,

Keywords: liquid biopsy, ctDNA, metastasis, pheochromocytoma, paraganglioma, genomic targets,

#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,