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Article

Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management.

Thyroid : official journal of the American Thyroid Association - 1 Jun 2006

Spyer Gill, Ellard Sian, Turnpenny Peter D, Hattersley Andrew T, Vaidya Bijay

Abstract excerpt

The multiple endocrine neoplasia (MEN) type 2B is an autosomal dominant condition characterized by aggressive medullary C-cell tumors, pheochromocytoma, and a discrete physical appearance (marfanoid habitus, prominent corneal nerve fibers, thick lips, and mucosal and intestinal neuromas). A specific point mutation in the RET proto-oncogene is present in 95% cases. Occasionally cases present with the...

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Identifiers

PMID: 16839263
DOI: 10.1089/thy.2006.16.605

Genes

RET

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