Hereditary disease in patients younger than 20 years of age with “apparently” sporadic pheochromocytoma

A M VIEITES; G SANSO; G LEVIN; M BARONTINI

Lima, Perú

Congreso; XX Reunión Anual Sociedad Latinoamericana de Endocrinología Pediátrica; 2008

Sociedad Latinoamericana de Endocrinología Pediátrica

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.