Multiple endocrine neoplasias type 2A and thyroid medullary carcinoma: an interdisciplinary challenge.
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.
Haecker
Frank-Martin
FM
Department of Pediatric Surgery, University Children's Hospital, P.O. Box, CH 4005 Basel, Switzerland. haeckerfm_ukbb@web.de
Oertli
Daniel
D
Gissler
Stefanie
S
Zumsteg
Urs
U
Avoledo
Pierino
P
von Schweinitz
Dietrich
D
D000293:Adolescent; D000328:Adult; D018276:Carcinoma, Medullary / Q000150:complications / Q000235:genetics* / Q000601:surgery; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000150:complications / Q000235:genetics* / Q000601:surgery; D009154:Mutation; D009367:Neoplasm Staging; D000090063:Proto-Oncogene Mas; D013964:Thyroid Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D013965:Thyroidectomy; D016896:Treatment Outcome