Medullary thyroid carcinoma in ethnic Chinese with MEN2A: a case report and literature review

Medullary Thyroid Carcinoma (MTC) is the most common cause of death in MEN patients. It is curative by prophylactic total thyroidectomy, but controversies remain as to the optimal timing for prophylactic thyroidectomy. The current recommendation is for prophylactic total thyroidectomy before age 5, but a recent study suggested that in the ethnic Chinese, even "high risk" mutations did not result in early malignant change, and it was suggested that prophylactic thyroidectomy may be performed at a later age. We report a case of an ethnic Chinese girl with MEN2A codon 634 (C634R) mutation, whose operative specimen at prophylactic thyroidectomy at 4 years 8 months showed MTC. We advocate that management of MEN2A patients should be codon-directed, regardless of ethnicity.