Hacking C, Ivey E, Sharma R, et al. Multiple endocrine neoplasia type IIb. Reference article, Radiopaedia.org (Accessed on 16 Feb 2025) 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.
A 25 year old female presents with enlarged cervical lymph nodes, subsequent CT confirmed calcified cervical lymphadenopathy as well as bilateral adrenal masses. What is the most likely underlying condition?
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