MEN2


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MEN2

MEN2

Abbreviation for multiple endocrine neoplasia 2.
References in periodicals archive ?
MEN2 is a syndrome caused by RET mutations inherited in an autosomal dominant pattern.
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.
Inheritance is important, and the risk to family members appears to be particularly high in MEN2. Patients with genetic mutations involving the cysteine radicals of the gene account for 92-95% of those who later develop MTC.
Thus, recognition of this syndrome is critical; therefore, genetic testing of RET is recommended in patients with a history of MTC, primary C-cell hyperplasia, or clinical features of MEN2 or FMTC.
A total of 319 patients with familial/sporadic MTC, MEN2, and mutation carriers from known MEN2/FMTC families were found to be eligible for retrospective analysis.
It is the most common vestibular disease effecting women more frequently than the men2. It can affect any age group, with the peak incidence occurring in the sixties and seventies3.
(a) Urinary Metanephrines Normetanephrine Metanephrine VHL 91% (32/35) 11% (4/35) MEN2 92% (22/24) 96% (23/24) NF1 100% (7/7) 100% (7/7) SDHB 76% (34/45) 16% (7/44) SDHD 88% (7/8) 0% (0/8) ALL 86% (102/119) 35% (41/118) Urinary Catecholamines Norepinephrine Epinephrine Dopamine VHL 65% (42/65) 2% (1/65) 6% (4/62) MEN2 47% (16/34) 59% (20/34) 24% (6/25) NF1 88% (7/8) 75% (6/8) 33% (2/6) SDHB 74% (32/43) 2% (1/42) 38% (16/42) SDHD 86% (6/7) 0% (0/7) 50% (3/6) ALL 66% (103/157) 18% (28/156) 22% (31/141) (a) Increased outputs were defined as those above the upper limits of reference intervals.
Bilateral and multifocal microMTC associated with CCH is pathognomonic of heritable MTC seen in MEN2 and familial MTC, and is caused by gain-of-function mutations in the RET proto-oncogene on 10q11.2.
The mean age of occurrence is the mid 50's, it is more common in women than in men2,3.
In contrast to multiple endocrine neoplasia type 2 (MEN2)-related pheochromocytomas, adrenal medullary hyperplasia is not associated with VHL-related pheochromocytomas.
The DSH is one of the top five causes of acute medical admissions for both women and men2. In the year after an episode of deliberate self harm, the suicide rate is 100 times3, that in the general population4.
Mutations in the RET protooncogene (exons 10, 11, and 13-16) cause multiple endocrine neoplasia type 2 (MEN2) syndromes, autosomal dominant disorders that lead to a high lifetime risk of medullary thyroid carcinoma.