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

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 characteristic physical appearance of MEN 2B but no identifiable germline mutation or endocrinopathy, and it has been suggested that these patients may represent a discrete subgroup termed pure mucosal neuroma syndrome (MNS). We present a patient with MNS, who had a thyroidectomy at age 14.5 years with normal thyroid histology. Direct sequencing of all 20 exons of the RET gene showed no mutation. This case supports the suggestion that pure MNS can exist in the absence of an identifiable RET gene mutation. We suggest that prophylactic thyroidectomy is unnecessary in these patients although they should still be screened for endocrinopathy on a regular basis.