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 family's genetic makeup was traced back to the mid-1800s. The
coding system referred to in the key may apply to either men or
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