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MEN2Multiple Endocrine Neoplasia Type 2
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Among 173 patients with pheochromocytomas, those with MEN2 or NF1 had higher plasma MN concentrations than those with VHL or SDH mutations, whereas those with SDH mutations had higher plasma 3MT concentrations than those with VHL.
2] Nonstandard abbreviations: MEN2, multiple endocrine neoplasia type 2; VHL, von Hippel-Lindau disease; NF1, neurofibromatosis type 1; SDH, succinate dehydrogenase; MN, metanephrine; NMN, normetanephrine; 3MT, 3-methoxytyramine.
The RET variants that alter RET function to cause MEN2 syndromes are mutations, whereas variants that do not cause MEN2 syndromes are polymorphisms (2,16-20).
An association between alterations at specific codons and the MEN2 subtypes has been shown (2,3).
Thus, given that >92% of MEN2 families have been found to carry a RET mutation [10], identification of gene carriers by direct means offers a more reliable, age-independent alternative to biochemical screening.