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Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: results in 71 thyroidectomized patients. The French
P Niccoli-Sire1, A Murat, E Baudin
1Services d'Endocrinologie et de Chirurgie Endocrinienne, CHU Timone, Marseille, France. pnicoli-sire@ap-hm.fr
Background:
Once genetic testing accurately identifies MEN 2 gene carriers, affected children are given the opportunity to undergo thyroidectomy at the earliest stages of the C-cell disease.
Objective:
To define reliable parameters by which to identify the best moment for thyroidectomy in patients who are carriers of the MEN 2 gene.
Patients And Methods:
Seventy-one MEN 2/FMTC gene carriers, collected through the national register of the French Calcitonin Tumours Study Group, were evaluated. All the patients included were younger than 20 years of age and underwent total thyroidectomy. Basal and pentagastrin-stimulated calcitonin were assayed using an immunoradiometric method (sensitivity less than 2pg/ml). Calcitonin measurement was evaluated on the basis of histopathological findings in surgical thyroid specimens.
Results:
We found C-cell hyperplasia or medullary thyroid carcinoma in all the 71 gene carriers - even for the youngest patients - and nodal metastases were present in four cases. Calcitonin measurement (basal or pentagastrin-stimulated) detected C-cell disease preoperatively in all patients. Six of the 71 patients were not surgically cured: one had nodal metastases, one had an advanced staged disease and four had an incomplete nodal dissection or had not undergone lymph node surgery.
Conclusions:
Determination of calcitonin forms an integral part of the management of MEN 2 gene carriers. Thyroidectomy is undisputably indicated when basal calcitonin is abnormal. When basal calcitonin is undetectable, a pentagastrin-stimulated increase in calcitonin to more than 10 pg/ml indicates an early thyroidectomy to cure the patient.
Insights
Genetic testing identifies MEN 2 gene carriers, enabling early thyroidectomy for C-cell disease. Calcitonin levels guide optimal timing for this crucial intervention in affected children.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Genetic testing identifies carriers of Multiple Endocrine Neoplasia type 2 (MEN 2).
- Early thyroidectomy is recommended for MEN 2 gene carriers to manage C-cell disease.
- Identifying the optimal timing for thyroidectomy is crucial for successful outcomes.
Purpose of the Study:
- To establish reliable parameters for determining the ideal timing of thyroidectomy in MEN 2 gene carriers.
- To correlate calcitonin levels with histopathological findings in MEN 2 patients.
Main Methods:
- Evaluation of 71 MEN 2/FMTC gene carriers under 20 years old who underwent total thyroidectomy.
- Assay of basal and pentagastrin-stimulated calcitonin using an immunoradiometric method.
- Correlation of calcitonin measurements with surgical thyroid specimen histopathology.
Main Results:
- C-cell hyperplasia or medullary thyroid carcinoma was found in all 71 gene carriers.
- Preoperative calcitonin measurements successfully detected C-cell disease in all patients.
- Four cases presented with nodal metastases; six patients were not surgically cured due to advanced disease or incomplete lymph node dissection.
Conclusions:
- Calcitonin determination is essential for managing MEN 2 gene carriers.
- Thyroidectomy is indicated for abnormal basal calcitonin levels.
- A pentagastrin-stimulated increase in calcitonin above 10 pg/ml warrants early thyroidectomy for cure.