Multiple endocrine neoplasias type 2A and thyroid medullary carcinoma: an interdisciplinary challenge

Pediatr Surg Int. 2003 Apr;19(1-2):62-4. doi: 10.1007/s00383-002-0837-9. Epub 2003 Mar 21.

Abstract

The diagnosis and treatment of multiple endocrine neoplasias type 2A (MEN 2A) requires interdisciplinary management. The association of RET proto-oncogene mutations and medullary thyroid carcinoma (MTC) in children is well-known, but the optimal timing for elective surgery is controversial. Besides the risk of MTC, associated anomalies like hyperparathyroidism have to be considered. We report the results of molecular genetic investigations, the pentagastrin stimulation test, pre- and postoperative staging, and histologic examinations of four children who had a positive family history for MEN 2A. Histologic specimens of the removed thyroid glands showed MTC in all four cases. The patients had an uneventful postoperative clinical course. In view of the recent literature and our patients' results, we suggest a concept for diagnostic strategy and timing of the elective thyroidectomy.

MeSH terms

  • Adolescent
  • Adult
  • Carcinoma, Medullary / complications
  • Carcinoma, Medullary / genetics*
  • Carcinoma, Medullary / surgery
  • Child
  • Female
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 2a / complications
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Multiple Endocrine Neoplasia Type 2a / surgery
  • Mutation
  • Neoplasm Staging
  • Proto-Oncogene Mas
  • Thyroid Neoplasms / complications
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / surgery
  • Thyroidectomy
  • Treatment Outcome