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To the Editor: Testing of the RET gene in patients with multiple endocrine neoplasia type 2 (MEN 2) and apparently isolated medullary thyroid carcinoma (MTC) is standard in molecular medicine. The MEN 2 syndromes and familial MTC are autosomal dominant disorders comprising 3 subtypes. MEN 2A includes MTC, pheochromocytoma (PC), and hyperparathyroidism. MEN 2B comprises MTC, PC, and characteristic developmental abnormalities (ie, marfanoid habitus and gastrointestinal tract ganglioneuromas). The operational classification of familial MTC is 4 or more family members with MTC without objective evidence of PC and hyperparathyroidism on screening of all living affected and at-risk individuals.¹

The International RET Mutation Consortium analyzed 477 independent MEN type 2 families and related the specific RET proto-oncogene mutations to disease phenotype.¹ Most families with MEN 2A and familial MTC had germline mutations in 1 of 5 cysteine codons (609, 611, 618, 620, and 634), which is the coding part of the . . . [Full Text of this Article]

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