Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Genetics - Health Professional Information [NCI] - Introduction
Some families previously classified as having FMTC will go on to develop one or more of the MEN2A-related tumors, suggesting that FMTC is simply a milder variant of MEN2A. Offspring of affected individuals have a 50% chance of inheriting the RET gene mutation.
The age at onset of MTC is different for each subtype of MEN2. MTC typically occurs during early childhood in patients with MEN2B, predominantly during early adulthood in patients with MEN2A, and during middle-age in patients with FMTC.
Germline DNA -based testing of the RET gene (chromosomal region 10q11.2) identifies disease-causing mutations in more than 95% of individuals with MEN2A and MEN2B and in about 88% of individuals with FMTC.
The prevalence of MEN2 has been estimated to be between 1 in 30,000 [4,5] and 1 in 35,000 individuals. The vast majority of MEN2 cases are MEN2A. In the United States, an estimated 451 cases of MEN2-related MTC are diagnosed per year.
Paragangliomas and pheochromocytomas are rare tumors arising from chromaffin cells, which have the ability to synthesize, store, and secrete catecholamines and neuropeptides. In 2004, the World Health Organization characterized pheochromocytomas as tumors arising in the adrenal gland. Paragangliomas may occur sporadically, as a manifestations of a hereditary syndrome, or as the sole tumor in hereditary paraganglioma/pheochromocytoma syndrome.
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