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Updated: Jun 6, 2026
Minimal Invasive Resection of Large Retrosternal Thyroid Goiter
Published on: September 20, 2024
Preventive thyroidectomy in patients with hereditary medullary thyroid carcinoma found heterozygote for mutant RET
Evangelos Konstantinou1, Konstantinou Evangelos, Theodoros Sapsakos Mariolis
1National and Kapodistrian University of Athens Faculty of Nursing, Surgical Nursing Section 18 Kivelis str. 15238 Athens Greece. ekonstan30@yahoo.com
Abstract:
The currently available genetic tests for identification of the RET proto-oncogene mutation offer the possibility of prospective successful therapy before the hyperplasia of C-cells evolve to Medullary Thyroid Carcinoma. We present our experience regarding the preventive thyroidectomy of family members with history of Medullary Thyroid Carcinoma, who were found to be heterozygote for mutant RET proto-oncogene. We have retrospectively reviewed 19 members of 6 families with history of Medullary Thyroid Carcinoma, who were heterozygote for mutant RET protooncogene and underwent prophylactic thyroidectomy. All patients included in this series were below twenty years of age. The Medullary Thyroid Carcinoma was asymptomatic and the mutation of RET protooncogene has been also documented pre-operatively in all of them. All patients had undergone total thyroidectomy, while 1 with pheochromocytoma had undergone also left epinephridectomy. Fourteen patients (73.68%) had undergone lymph-nodes resection (in 10 of them the resection was central, in 3 unilateral and in 1 bilateral). Although none of our patients suffered from hyperparathyroidism, 7 parathyroid glands have been also resected from 3 patients, while auto-transfusion has been performed in one. In all patients, preoperative measurement of the calcitonin blood levels before and after stimulation with pentagastrin has been performed.
Insights
Prophylactic thyroidectomy in individuals with a RET proto-oncogene mutation prevents Medullary Thyroid Carcinoma. This study reviewed 19 young patients who underwent preventive surgery, demonstrating its effectiveness.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Medullary Thyroid Carcinoma (MTC) is linked to RET proto-oncogene mutations.
- Early identification and intervention are crucial for preventing MTC progression.
Purpose of the Study:
- To evaluate the outcomes of prophylactic thyroidectomy in young individuals with a history of MTC and a detected RET proto-oncogene mutation.
- To assess the effectiveness of preventive surgery in asymptomatic carriers.
Main Methods:
- Retrospective review of 19 patients from 6 families heterozygote for mutant RET proto-oncogene.
- All patients were under 20 years old and underwent total thyroidectomy.
- Preoperative genetic testing, calcitonin level measurement, and surgical procedures including lymph node resection were performed.
Main Results:
- All 19 patients were asymptomatic for MTC preoperatively.
- Prophylactic thyroidectomy was performed, with lymph node resection in 73.68% of cases.
- One patient with pheochromocytoma also underwent epinephridectomy.
Conclusions:
- Prophylactic thyroidectomy is an effective preventive strategy for individuals with RET proto-oncogene mutations.
- Early surgical intervention can prevent the development of Medullary Thyroid Carcinoma in at-risk populations.
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