Skinner MA et al. (2005) Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 353: 1105–1113

Researchers at Duke University School of Medicine and Washington University school of Medicine have recently published the results of a study on prophylactic thyroidectomy in children genetically at risk of developing medullary thyroid carcinoma (MTC). The paper, published in the New England Journal of Medicine, reports a 100% success rate when this procedure was performed in children younger than 8 years of age.

Skinner and co-workers initiated a genetic screening programme to identify at-risk patients with mutations in the RET proto-oncogene, which has been identified as the cause of multiple endocrine neoplasia type 2A (MEN-2A), type 2B (MEN-2B), and familial MTC. Almost all patients with one of these conditions go on to develop MTC. Fifty patients under the age of 19, identified as having MEN-2A, underwent total thyroidectomy with resection of the surrounding lymph nodes. Patients were followed up 5–10 years after surgery with physical examination and provocative testing for plasma calcitonin levels. In 88% of patients, plasma calcitonin was undetectable, indicating no evidence of disease. Postoperative elevation of plasma calcitonin was recorded in 21% of children who were at least 8 years old at the time of surgery, whereas levels of this tumor marker remained undetectable in all patients who underwent surgery aged 7 years or younger (P = 0.03).

The authors concluded that total thyroidectomy is an effective treatment for children who are at risk of developing MTC, but that the timing of the procedure is crucial.