Multiple endocrine neoplasia type 2B
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Multiple endocrine neoplasia type 2B (MEN 2B) is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands. It is the most severe type of multiple endocrine neoplasia,[2] differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies. It was first described by Wagenmann in 1922,[3] and was first recognized as a syndrome in 1965–1966 by E.D. Williams and D.J. Pollock.[4][5] It is caused by the pathogenic variant p.Met918Thr in the RET gene. This variant can cause medullary thyroid cancer and Pheochromocytoma. Presentation can include a Marfanoid body, enlarged lips, and ganglionueuromas.
Multiple endocrine neoplasia type 2b | |
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Other names | MEN 2B, Mucosal neuromata with endocrine tumors, Multiple endocrine neoplasia type 3 ,Wagenmann–Froboese syndrome[1] |
Micrograph of medullary thyroid carcinoma, as may be seen in MEN 2b. H&E stain. | |
Specialty | Endocrinology |
MEN 2B typically manifests before a child is 10 years old. Affected individuals tend to be tall and lanky, with an elongated face and protruding, blubbery lips. Benign tumors (neoplasms) develop in the mouth, eyes, and submucosa of almost all organs in the first decade of life.[6] Medullary thyroid cancer almost always occurs, sometimes in infancy. It is often aggressive. Cancer of the adrenal glands (pheochromocytoma) occurs in 50% of cases.
A variety of eponyms have been proposed for MEN 2B, such as Williams-Pollock syndrome, Gorlin-Vickers syndrome, and Wagenmann-Froboese syndrome. However, none ever gained sufficient traction to merit continued use, and they are no longer used in the medical literature.[7]
The prevalence of MEN2B is not well established, but has been derived from other epidemiological considerations as 1 in 600,000[8] to 1 in 4,000,000.[9] The annual incidence has been estimated at 4 per 100 million per year.[10]