ECE2016 Eposter Presentations Endocrine tumours and neoplasia (68 abstracts)
Phaeochromocytomas and paragangliomas: A comparative study between sporadic and familial cases in a reference care center in Spain
Guillermo Ropero Luis 1 , José Ángel Díaz Pérez 2 , Teresa Ruiz Gracia 2 , Martín Cuesta Hernández 3 , Emilia Gómez Hoyos 4 , Irene Crespo Hernández 2 & Paz de Miguel Novoa 2
1Department of Internal Medicine, Hospital Regional Universitario de Málaga, Málaga, Spain; 2Department of Endocrinology and Nutrition, Hospital Clínico San Carlos, Madrid, Spain; 3Endocrine Unit, Beaumont Hospital, Dublin, Ireland; 4Department of Endocrinology and Nutrition, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
Introduction: Hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) account for 30–35% of cases and have some clinically relevant peculiarities.
Material and methods: Retrospective, unicentric cohort study that included all genotyped patients (n=36, 27 with PCC and 9 with PGL) diagnosed at Hospital Clínico San Carlos (Madrid) between 1984 and 2013; 33% were germline mutation carriers (25% pseudohypoxic [PH] phenotype, 75% MAP-kinase [MAPK] phenotype). Median follow-up was 98 (IQR 56-141) months. A comparative analysis was performed using the Mann–Whitney U test, the χ2 test and the log-rank test.
Results: Median age at diagnosis was 35.3 (21.9–45.1) years in familial cases, and 64.4 (48.2–73.0) in sporadic cases (P=0.02). Most of the sporadic cases were diagnosed incidentally (61% vs 17%, P=0.01). Multifocality was more frequent in familial cases (50% vs 8%, P=0.01). Recurrent disease after surgery was present in 40% of familial cases and in no sporadic cases (P=0.006, median time 73 [30–85] months); it was more frequent in the PH group (67%) than in the MAPK group (17%). Progression-free survival (PFS) was longer in sporadic cases (P=0.009).
Conclusions: Age at diagnosis was significantly lower in familial cases of PCC/PGL. Malignant behaviour and multifocality were associated with familial cases. Genetic testing allowed for early diagnosis in asymptomatic mutation carriers, although sporadic cases had significantly longer PFS.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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