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,

#4385 SDHB-related metastatic paragangliomas treated with capecitabine and temozolomide: Experience of a tertiary centre

Introduction: SDHB pathogenic variants predispose to aggressive and metastatic paragangliomas (mPGLs). International consensus recommends temozolomide treatment (low-grade evidence). Capecitabine and temozolomide (CAPTEM) has shown advantage over temozolomide in the treatment of neuroendocrine tumours (NETs). Evidence for its use in mPGLs remains scarce.

Conference:

Presenting Author: G. Martins R

Authors: Silva L, Martins R, Couto J, Garcia R, Martins Fernandes A,

Keywords: mPGL, SDHB, captem,

#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,

#4208 The somatostatin system – A silent messenger in pheochromocytomas and paragangliomas?

Introduction: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine neoplasms (NENs) arising from neural crest-derived chromaffin cells. Due to the abundance of somatostatin receptors (SSTs) on the surface of most NENs, somatostatin analogues (SSAs) have become a cornerstone in their diagnosis and treatment. However, while PPGLs exhibit this feature, their functional responsiveness to SSAs remains limited, with the underlying cause of this resistance being still elusive.

Conference:

Presenting Author:

Authors: García Vioque V, Moreno-Montilla M, Blázquez-Encinas R, Barlier A, Arroba E,

Keywords: pheochromocytomas, paragangliomas, neuroendocrine tumor, somatostatin analogues, treatment resistance,

#3978 SDHx germline mutation in thymic neuroendocrine tumors

Introduction: Mutation in succinate dehydrogenase complex genes (SDHA, SDHB, SDHC, SDHD) could be found in 10% of hereditary paraganglioma-pheochromocytomas and gastrointestinal stromal tumors. Nearly 25% of thymic neuroendocrine tumors (TNETs) are asscociated with MEN1. TNETs asscociated with SDHx germline mutation have not been reported.

Conference:

Presenting Author: Liang Y

Authors: Liang Y, Chen J,

Keywords: SDHx，thymic neuroendocrine tumor,