Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes

Abstract

Aim of the study: The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome.

Methods: A chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed.

Main results: The study included 21 patients (57% female) with a mean age of 6.2±2.5years. All patients were asymptomatic at first evaluation. Nineteen had MEN2A syndrome with RET proto-oncogene mutations identified. The remaining two were RET-negative with familial medullary thyroid cancer (FMTC). One patient had a concomitant Hirschsprung disease. Of the 11 patients who had RET proto-oncogene mutations ranked as Moderate Risk for medullary thyroid cancer (MTC) (American Thyroid Association), one had a microcarcinoma on the resected specimen, and the others had C-Cell Hyperplasia. Among the 8 patients who had RET proto-oncogene mutations ranked as High Risk level for MTC, all had microcarcinoma. Of the nine patients with microcarcinoma, three underwent surgery after 5years of age. No microcarcinoma exceeded 6mm. There were no permanent complications. Six patients experienced transient hypocalcemia, of which only one was symptomatic. No patients had lymph node involvement, and no recurrence was noted during the follow-up period.

Conclusions: Of 21 children with familial thyroid cancer syndrome who underwent a prophylactic thyroidectomy, nine had microcarcinoma. This study highlights the need for a complete familial history, including FMTC history and mandatory preventive surgical approach.

Level of evidence: III.

Keywords: MEN2A; Outcomes; Prophylactic thyroidectomy.