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 (2014)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Guillermo Ropero Luis
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