Diagnostic and Outcome Differences between Sporadic and Familial Cases of Pheochromocytoma and Paraganglioma: A Retrospective Cohort Study Abstract #865

Introduction: Hereditary Pheochromocytomas (PCC) and Paragangliomas (PGL) account for 30-35% of cases and have some clinically relevant peculiarities.
Aim(s): To analyze differences in diagnosis and outcome between sporadic and familial cases of PCC/PGL.
Materials and methods: All genotyped patients (n=31, 24 with PCC and seven with PGL) diagnosed at Hospital Clínico San Carlos between 1988-2012 were included; 35.5% were germline mutation carriers (27.3% pseudohypoxic phenotype [PH], 72.7% MAP-kinase phenotype [MAPK]). Median follow-up was 55 months (IQR 23-91) for 28 patients. A comparative analysis was performed using Mann-Whitney U test, chi-squared test and Breslow test.
Conference: 11th Annual ENETS Conference (2014)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Guillermo Ropero Luis

To read results and conclusion, please login ...

Further abstracts you may be interested in

#1173 Investigation of the Effects of Sunitinib on Pheochromocytoma and Paraganglioma Primary Cultures
Introduction: The main treatment for Pheochromocytoma and Paraganglioma is surgery. However these tumors are highly vascularized, suggesting the possible role for anti-angiogenic agents in the medical therapy. Sunitinib is a multi-targeted receptor tyrosine kinase inhibitor (TKI), mainly described to inhibit VEGFR
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Dr Teresa Gagliano
Authors: Bellio M, Gagliano T, Feo C, Balboni F, ...
#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)
Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Emilio Bajetta
#246 SDHB Loss Predicts Malignancy in Pheochromocytomas/Sympathethic Paragangliomas, but Not Through Hypoxia Signalling
Introduction: To date there is no reliable histopathological marker of malignancy for pheochromocytomas/sympathetic paragangliomas (PCC/PGL). It is well-known that PCC/PGL in the hereditary context of an SDHB germline mutation very often metastasize. The immunohistochemical loss of SDHB expression was recently shown to be a surrogate marker for the presence of an SDH germline mutation in PCC/PGL. SDHB loss is supposed to be tumorigenic via activation of hypoxia signals.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Dr Anja M Schmitt
#590 Imaging of Metastatic-Recurrent Paragangliomas and Pheochromocytomas with Ga-68 DOTATATE PET/CT
Introduction: Approximately 73% of Pheochromocytomas(Pheo) and 93% of paragangliomas(PGL) express somatostatin receptors and Ga-68 DOTATATE PET/CT may have a role in metastatic PHEO/PGLs for determination of extent of disease.
Conference:
Category: Clinical
Presenting Author: Dr. emre demirci
Authors: demirci E, ocak M, kabasakal L, yeyin N, ...
#944 Pheochromocytoma and Paraganglioma in Pediatric Age
Introduction: Pheochromocytoma (PHE) and paraganglioma (PGL) are rare tumors of the adrenal medulla and extra-adrenal sympathetic chromaffin tissue. Nearly 30% of them are familiar or associated with genetic syndromes (VHL, MEN2, NF1, SDH mutation, Pacak-Zhuang). Only 20% PHE occur before 20 years of age. Incidence of pediatric PHE is 0.3:1 million.
Conference: 11th Annual ENETS Conference (2014)
Category: Clinical cases/reports
Presenting Author: MD, PhD Viera - Bajciova
Authors: Bajciova V, Kren L, Vicha A, ...