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
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.
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]
^Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 858. ISBN 978-1-4160-2999-1.
^Carlson KM, Bracamontes J, Jackson CE, et al. (December 1994). "Parent-of-origin effects in multiple endocrine neoplasia type 2B". Am. J. Hum. Genet. 55 (6): 1076–82. PMC 1918453. PMID 7977365.
^Wagenmann A. (1922). "Multiple neurome des Auges und der Zunge". Ber Dtsch Ophthalmol Ges. 43: 282–5.
^Williams ED (1965). "A review of 17 cases of carnicoma of the thyroid and phaeochromocytoma". J Clin Pathol. 18 (3): 288–292. doi:10.1136/jcp.18.3.288. PMC 472926. PMID 14304238.
^Williams, E. D., Pollock, D. J. (1966). "Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease". J. Pathol. Bacteriol. 91 (1): 71–80. doi:10.1002/path.1700910109. PMID 4957444.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^Fryns JP, Chrzanowska K (October 1988). "Mucosal neuromata syndrome (MEN type IIb (III))". J. Med. Genet. 25 (10): 703–6. doi:10.1136/jmg.25.10.703. PMC 1051565. PMID 2906373.
^Schimke RN, Hartmann WH, Prout TE, Rimoin DL (1968). "Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue". N. Engl. J. Med. 279 (1): 1–7. doi:10.1056/NEJM196807042790101. PMID 4968712.
^Marx, Stephen J (2011). "Chapter 41: Multiple endocrine neoplasia". In Melmed, Shlomo (ed.). Williams Textbook of Endocrinology, 12th ed. pp. 1728–1767.
^Moline J, Eng C (2011). "Multiple endocrine neoplasia type 2: an overview". Genetics in Medicine. 13 (9): 755–764. doi:10.1097/GIM.0b013e318216cc6d. PMID 21552134. S2CID 22402472.
^Martino Ruggieri (2005). Neurocutaneous Disorders : The Phakomatoses. Berlin: Springer. ISBN 978-3-211-21396-4. - Chapter: Multiple Endocrine Neoplasia Type 2B by Electron Kebebew, Jessica E. Gosnell and Emily Reiff. Pages 695-701. [1] This reference quotes a prevalence of 1 in 40,000, but this figure is inconsistent with the same reference's calculated incidence of 4 per 100 million per year for MEN2B.
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