CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Hereditary disease in patients younger than 20 years of age with apparently sporadic pheochromocytoma
Autor/es:
A M VIEITES; G SANSO; G LEVIN; M BARONTINI
Lugar:
Lima, Perú
Reunión:
Congreso; XX Reunión Anual Sociedad Latinoamericana de Endocrinología Pediátrica; 2008
Institución organizadora:
Sociedad Latinoamericana de Endocrinología Pediátrica
Resumen:
Pheochromocytomas (pheos) are catecholamine secreting tumors. Familial pheos are found more often than traditionally assumed. This may be due to associations to Multiple Endocrine Neoplasia 2, von Hippel Lindau disease, and neurofibromatosis type 1. Mutations of the gene coding for the D , B and C subunits of succinate dehydrogenase (SDHD, SDHB and SDHC) are known . We evaluated 36 patients with pheo younger than 20 y of age to assess the presence of familiar disease. 12/36 were relatives or had clinical features of familial disease. In the remaining 24 patients molecular studies were performed. We identified germ-line mutations in 15 patients (62.5%); 11 (45.8%) had vhl mutations and 4 (16.6%) of SDHB. The clinical outcome was favourable in 17/24 (follow between 1-40 y) , without recurrence or metastasis (10 showed mutations of vhl, 1 with SDHB mutations and 6 were negative). 1 patient died (negative) and 5 were unfavourable: 3 with metastases (1 SDHB, 2 negative), 1 with local recurrences (SDHB) and 1 with hemangiomas (vhl). 2 patients were lost to follow up. The high prevalence of mutations found in these young patients, mainly in the vhl gene, underscores the importance of the molecular studies to better characterize this condition in the patients and other family members and may improve the outcome.