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Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype

Endokrinologische Gemeinschaftspraxis, 69120 Heidelberg, Germany, ¹ Chirurgische Universitätsklinik Charite, 12200 Berlin, Germany, ² Chirurgische Universitätsklinik Halle, 06120 Halle, Germany, ³ Chirurgische Universitätsklinik Rostock, 18057 Rostock, Germany, ⁴ Chirurgische Universitätsklinik Münster, 48149 Münster, Germany, ⁵ Chirurgische Universitätsklinik Heidelberg, 69120 Heidelberg, Germany and ⁶ Inst. für Hormon- und Fertilitätsforschung, 22529 Hamburg, Germany

(Correspondence should be addressed to K Frank-Raue; Email: karin.frankraue{at}raue-endokrinologie.de)

Objective: In children with RET proto-oncogene mutation, curative treatment of medullary thyroid carcinoma (MTC) is possible by prophylactic thyroidectomy. Recommendations on the timing and extent of thyroidectomy are based upon a model that utilises genotype–phenotype correlations to stratify mutations into three risk groups.

Design: We evaluated the long-term outcome (mean follow-up 6.4 years, 15 patients more than 10 years, 26 patients more than 5 years) of operated gene carriers stratified into two risk groups (levels 1 and 2) based on the biological aggressiveness of MTC.

Results: In 46 RET gene carriers, prophylactic thyroidectomy was carried out between the ages of 4 and 21 years. Level 1 mutations were harboured by 11 patients (codons 790, 791, 804 and 891). Histology was completely normal in two patients; in seven patients C-cell hyperplasia (CCH) and in two patients T1 tumours were diagnosed. All patients with level 1 mutations were cured. Level 2 mutations were harboured by 35 patients (codons 618, 620, 630 and 634). Histology of these patients showed CCH in 11 patients, T1 tumours in 21, T2 tumour in 1, T3 tumour in 1 and Tx in 1 patient. Histology showed no lymph node involvement. Five patients with level 2 mutations failed to be cured; in two patients, persistence of MTC was diagnosed directly after thyroidectomy and in three during follow-up. In two patients carrying a 634 mutation, other endocrinopathies (hyperparathyroidism and bilateral pheochromocytoma) manifested during follow-up.

Conclusions: If prophylactic thyroidectomy is done at early ages, cure rate is high. Timing and extent of prophylactic thyroidectomy can be modified by individual RET mutation.

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				M. Colombo-Benkmann, Z. Li, B. Riemann, K. Hengst, H. Herbst, R. Keuser, U. Gross, S. Rondot, F. Raue, N. Senninger, et al. Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma. Eur. J. Endocrinol., June 1, 2008; 158(6): 811 - 816. [Abstract] [Full Text] [PDF]