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Predictive DNA testing for multiple endocrine neoplasia 2: a therapeutic challenge of prophylactic thyroidectomy in
L W van Heurn1, C Schaap, G Sie
1Department of Surgery, University Hospital of Maastricht, The Netherlands.
Background:
Patients with multiple endocrine neoplasia (MEN) type 2 are at risk for early medullary thyroid carcinoma (MTC). Recently, the cloning of the ret oncogene has made it possible to identify patients at risk for MEN 2 syndrome with a high degree of reliability before presenting any symptoms.
Methods:
Children of families with MEN 2 were screened genetically if one of the parents was a known gene carrier of the RET proto-oncogene. If they were carriers, thyroidectomy was performed.
Results:
The authors report five children with MEN 2 who underwent prophylactic thyroidectomy irrespective of the results of calcitonin screening tests after genetic screening had shown that they were carrier of the RET proto-oncogene. Apart from a temporary hypocalcemia in one, the operations were uneventful. Pathology results showed MTC in three children of one family with MEN 2A at age 2, 3, and 6 years. In two families with MEN 2B the thyroidectomy specimen showed bilateral MTC in a 1-year-old and a 3-year-old child.
Conclusions:
These findings show that MTC occurs at very young age in children with MEN 2. The authors advocate performing prophylactic thyroidectomy in the first year of life in children with MEN 2B and at age 2 years in children with MEN 2A to obtain an optimal cure rate.
Insights
Genetic screening for RET proto-oncogene mutations enables early identification of children at risk for Multiple Endocrine Neoplasia (MEN) type 2. Prophylactic thyroidectomy in infancy or early childhood is recommended to prevent medullary thyroid carcinoma (MTC).
Area of Science:
- Pediatric Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia (MEN) type 2 predisposes individuals to early medullary thyroid carcinoma (MTC).
- RET proto-oncogene testing allows for reliable identification of at-risk individuals before symptom onset.
Purpose of the Study:
- To evaluate the efficacy of prophylactic thyroidectomy in children with MEN type 2.
- To determine optimal timing for surgical intervention based on genetic screening results.
Main Methods:
- Genetic screening of children from MEN 2 families for RET proto-oncogene mutations.
- Prophylactic thyroidectomy performed on identified carriers, regardless of calcitonin levels.
- Histopathological examination of thyroidectomy specimens.
Main Results:
- Five children with MEN 2 underwent prophylactic thyroidectomy.
- Medullary thyroid carcinoma (MTC) was detected in three children with MEN 2A (ages 2, 3, 6) and two children with MEN 2B (ages 1, 3).
- Surgical outcomes were uneventful, with transient hypocalcemia in one patient.
Conclusions:
- Medullary thyroid carcinoma (MTC) can occur at a very young age in children with MEN 2.
- Prophylactic thyroidectomy is recommended in the first year of life for MEN 2B and by age 2 for MEN 2A to maximize cure rates.