Prophylactic Thyroidectomy in Multiple Endocrine Neoplasia Type 2A
Michael A. Skinner, M.D., Jeffrey A. Moley, M.D., William G. Dilley, Ph.D., Kouros Owzar, Ph.D., Mary K. DeBenedetti, B.S.N., and Samuel A. Wells, Jr., M.D.
Background Medullary thyroid carcinoma is the most common causeof death in patients with multiple endocrine neoplasia (MEN)type 2A (MEN-2A) or type 2B or familial medullary thyroid carcinoma.We sought to determine whether total thyroidectomy in asymptomaticyoung members of kindreds with MEN-2A who had a mutated alleleof the RET proto-oncogene could prevent or cure medullary thyroidcarcinoma.
Methods A total of 50 patients 19 years of age or younger whowere consecutively identified through a genetic screening programas carriers of a RET mutation characteristic of MEN-2A underwenttotal thyroidectomy. Five to 10 years after the surgery, eachpatient was evaluated by physical examination and by determinationof plasma calcitonin levels after stimulation with provocativeagents.
Results In 44 of the 50 patients, basal and stimulated plasmacalcitonin levels were at or below the limits of detection ofthe assay (proportion, 0.88; 95 percent confidence interval,0.76 to 0.95). Two patients had basal and stimulated plasmacalcitonin levels above the normal range. Stimulated plasmacalcitonin levels had increased but remained within the normalrange in four patients. The data suggest that there was a lowerincidence of persistent or recurrent disease in children whounderwent total thyroidectomy before eight years of age andin children in whom there were no metastases to cervical lymphnodes.
Conclusions In this study, young patients identified by directDNA analysis as carriers of a RET mutation characteristic ofMEN-2A had no evidence of persistent or recurrent medullarythyroid carcinoma five or more years after total thyroidectomy.A longer period of evaluation will be necessary to confirm thatthey are cured.
Source Information
From the Department of Surgery (M.A.S., S.A.W.) and the Department of Biostatistics and Bioinformatics (K.O.), Duke University School of Medicine, Durham, N.C.; and the Department of Surgery, Washington University School of Medicine, St. Louis (J.A.M., W.G.D., M.K.D.).
Address reprint requests to Dr. Wells at Box 3285, Duke University Medical Center, Durham, NC 27710, or at wells029{at}mc.duke.edu.
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