Bilateral Medullary Thyroid Carcinoma in a 3-Year-Old Female Patient with Multiple Endocrine Neoplasia 2A Syndrome Undergoing Prophylactic Thyroidectomy: Should Current Guidelines Be Revised?

Abbas Al-Kurd, David J. Gross, David Zangen, Karine Atlan, Haggi Mazeh, Simona Grozinsky-Glasberg

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Background: Multiple endocrine neoplasia (MEN) 2A is an autosomal dominant disorder that results from a mutation in the RET proto-oncogene on chromosome 10. Almost all of the affected patients develop medullary thyroid carcinoma (MTC). The American Thyroid Association recommends prophylactic thyroidectomy in MEN 2A pediatric patients, with the age of the recommended thyroidectomy varying according to the codon mutation present. Objectives: This report questions the reliability of the currently placed guidelines and whether the age threshold for prophylactic thyroidectomy in patients with known codon 634 mutations should be lowered, in parallel with an earlier evaluation of calcitonin levels in the serum. Methods: We report the preoperative diagnosis as well as operative and postoperative course of a 3-year-old female patient with MEN 2A (codon 634 mutation) who underwent prophylactic thyroidectomy. The postoperative histopathologic findings are presented and discussed. Results: Despite the prophylactic nature of the operation, in parallel with a borderline calcitonin increase in the serum, bilateral MTC was discovered on pathology. Conclusion: It is likely that the current guidelines should be revised to recommend calcitonin screening and prophylactic thyroidectomy at an earlier age for MEN 2A patients with known codon 634 mutations.

Original languageAmerican English
Pages (from-to)267-271
Number of pages5
JournalEuropean Thyroid Journal
Volume7
Issue number5
DOIs
StatePublished - 1 Oct 2018

Bibliographical note

Publisher Copyright:
© 2018 European Thyroid Association Published by S. Karger AG, Basel. All rights reserved.

Keywords

  • Age
  • Guidelines
  • Incidental carcinoma
  • Medullary thyroid carcinoma
  • Multiple endocrine neoplasia 2A
  • Prophylactic thyroidectomy

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