Gaillard F, Hacking C, Ivey E, et al. Multiple endocrine neoplasia type IIb. Reference article, Radiopaedia.org (Accessed on 11 Dec 2024) https://doi.org/10.53347/rID-1622
Multiple endocrine neoplasia (MEN) type IIb, also known as MEN type 3 (MEN3) 3 or mucosal neuroma syndrome 2, accounts for only 5% cases of MEN2 and is characterized by:
pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal
The estimated prevalence of MEN2b is about 1 per 500,000 to 1,000,000 6.
Pathology
Genetics
A germline single amino acid substitution in the RET proto-oncogene is the major cause of MEN-2B and is distinct from the RET mutations seen in MEN-2A. This results in constitutive activation of RET 4,5.
3. Thakker RV. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Molecular and cellular endocrinology. 386 (1-2): 2-15. doi:10.1016/j.mce.2013.08.002 - Pubmed
4. Carlson K, Dou S, Chi D et al. Single Missense Mutation in the Tyrosine Kinasecatalytic Domain of the RET Protooncogene is Associated with Multiple Endocrineneoplasia Type 2B. Proc Natl Acad Sci USA. 1994;91(4):1579-83. doi:10.1073/pnas.91.4.1579 - Pubmed
5. Vinay Kumar, Abul K. Abbas, Jon C. Aster. Robbins & Cotran Pathologic Basis of Disease. (2020) ISBN: 9780323531139 - Google Books
6. Mathiesen J, Effraimidis G, Rossing M et al. Multiple Endocrine Neoplasia Type 2: A Review. Semin Cancer Biol. 2022;79:163-79. doi:10.1016/j.semcancer.2021.03.035
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