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Arquivos Brasileiros de Endocrinologia & Metabologia

versão On-line ISSN 1677-9487


DAHIA, Patricia L.M.. Patogênese molecular do feocromocitoma. Arq Bras Endocrinol Metab [online]. 2001, vol.45, n.6, pp.507-519. ISSN 1677-9487.

Pheochromocytomas are rare tumors arising from neuroectodermal cells. In 10% of the cases, these tumors can be inherited as part of multiple endocrine neoplasia type 2, von-Hippel Lindau syndrome, neurofibromatosis type 1, isolated forms of familial pheochromocytoma and other, less well characterized variants. While vast progress has been made in recent years towards the identification of the primary genetic defect leading to the major familial pheochromocytoma syndromes, characterization of the molecular events involved in determining the sporadic phenotype has lagged far behind. This review attempts to show a summary of the current molecular knowledge of the familial forms of pheochromocytoma as well as sporadic tumors. We conclude by proposing novel strategies aimed at shedding light into some aspects of pheochromocytoma pathogenesis that are yet to be elucidated.

Palavras-chave : Pheochromocytoma; Neoplasia; Genetics; Mutation; Sporadic cancer; RET; VHL; SDHD.

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