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.
Department of Pediatric Surgery, University Children's Hospital, P.O. Box, CH 4005 Basel, Switzerland. haeckerfm_ukbb@web.de
Frank-Martin
FM
Haecker
Daniel
D
Oertli
Stefanie
S
Gissler
Urs
U
Zumsteg
Pierino
P
Avoledo
Dietrich
D
von Schweinitz
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