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MEN 2AMultiple Endocrine Neoplasia Syndrome Type-2A
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In patients with MEN 2A, the etiology appears to differ and an association with the codon 634 RET mutation has been reported in the literature (5,7).
There are usually no known triggering or alleviating factors, although one review in the literature suggests that patients with MEN 2A demonstrate amelioration of symptoms following exposure to sunlight (7).
More than 98% of MEN 2A families present with missense mutations in one of five codons: 609, 611, 618, 620 (exon 10), or 634 (exon 11).
Pheochromocytomas in MEN 2A and B syndromes are generally benign tumors and bilateral in >50% of the patients [29].
Specific mutations of the RET protooncogene are related to disease phenotype in MEN 2A and FMTC.
Familial Hyperparathyroidism Syndromes MEN 1 (multiple endocrine neoplasia 1) MEN 2A (multiple endocrine neoplasia 2A) HPT-JT (hyperparathyroidism-jaw tumor syndrome) FIHP (familial isolated hyperparathyroidism)
MEN 2A syndrome is the most common medullary thyroid cancer.
These four patients were carriers of RET mutations (two cases with familial MTC not associated with MEN, one case with MEN 2A, and one case with MEN 2B).
In MEN 2A, the most common form of MEN 2, 98% of patients have germline mutations involving five cysteine codons partially encoding the extracellular domain of the protein (codons 609, 611, 618, 620, and 634).
Mutation analysis of RET permits identification of MEN 2A carriers and can reduce morbidity and mortality through early intervention (6).
As stated, although the common MEN 2B mutation in exon 16 (M918T) removes a Fok I site and could therefore be easily analyzed by restriction digest, exons 10 and 11 harbor a variety of mutations in multiple codons in MEN 2A and MTC patients (see Table 1 in reference 11).
We have adapted this technique to detect mutations in exons 10, 11, and 16 associated with inherited MTC (MEN 2A, MEN 2B, or FMTC).