Multiple Endocrine Neoplasia Type 2
Synonyms
multiple endocrine neoplasia type 2 (MEN 2)
MEN II
MEA II
Sipple syndrome
Subtypes of MEN 2 are: MEN 2A, MEN 2B, FMTC (familial medullary thyroid carcinoma).
Definition
MEN 2 is a syndrome of inherited susceptibility to tumours of the thyroid “C” cells, the adrenal medulla and the parathyroid glands; associated in some subtypes with developmental abnormality. It is caused by dominantly inherited mutations in the ret receptor tyrosine kinase, which result in activation of the kinase in the absence of the specific ligand.
Characteristics
The principal tumour in MEN 2 is the medullary thyroid carcinoma (MTC), which arises from the “C” cells of the thyroid ( thyroid carcinogenesis). The normal function of “C” cells is to produce the hormone calcitonin; but the manifestations of MTC are those of local and invasive cancer rather than of hormone overproduction. MTC may first be manifest in early childhood (in the MEN 2B subtype, as early as the first year of life), but the age of...
References
- 1.Lips CJ, Landsvater RM, Hoppener JW et al (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. New Engl J Med 331:828–835PubMedGoogle Scholar
- 2.Ponder BAJ, Smith D (1996) The MEN 2 syndromes and the role of the RET proto-oncogene. Adv Cancer Res 70:180–222Google Scholar
- 3.Pasini B, Ceccherini I, Romeo G (1996) RET mutations in human disease. Trends Genet 12:138–146PubMedGoogle Scholar
- 4.Ponder BAJ (1999) The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome. Cancer Res 59:1736s–1742sPubMedGoogle Scholar