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[Hereditary thyroid cancer can be cured by prophylactic surgery]
G Wallin1, A G Bondesson, L O Farnebo
1Kirurgiska kliniken, Karolinska sjukhuset, Stockholm.
Abstract:
Multiple endocrine neoplasia type 2 (MEN 2) is a rare syndrome in which the consequences for the patient and family members are considerable. Mutation analysis of the RET proto-oncogene is crucial for decision-making regarding each patient. Today, carriers of MEN 2 mutations should be offered prophylactic thyroidectomy with the potential to eliminate the risk for potentially lethal medullary thyroid carcinoma (MTC). Here, we present the first Swedish experience of such operations performed mainly on the basis of genetic analysis. Twenty patients underwent total thyroidectomy at a mean age of 13.5 (6-43) years. In all cases, either manifest MTC (n = 11) or C-cell hyperplasia was found. So far, no patient has any sign of recurrence or developmental insufficiency at 1-5 years follow-up. As the medical and ethical problems in this group of patients are substantial, and as the operations are performed in otherwise healthy children, they should be treated at centers with adequate multidisciplinary expertise and competence.
Insights
Genetic analysis enables prophylactic thyroidectomy for Multiple Endocrine Neoplasia type 2 (MEN 2) patients, preventing lethal medullary thyroid carcinoma (MTC). Swedish experience shows this approach is safe and effective in young patients.
Area of Science:
- Endocrinology
- Genetics
- Surgical Oncology
Background:
- Multiple Endocrine Neoplasia type 2 (MEN 2) is a rare genetic syndrome with significant patient and family impact.
- RET proto-oncogene mutation analysis is critical for managing MEN 2 and preventing medullary thyroid carcinoma (MTC).
- Prophylactic thyroidectomy is recommended for MEN 2 mutation carriers to eliminate MTC risk.
Observation:
- This study details the first Swedish experience with prophylactic thyroidectomy based on genetic analysis for MEN 2.
- Twenty patients underwent total thyroidectomy, with a mean age of 13.5 years (range 6-43).
- All patients had either manifest MTC (11 cases) or C-cell hyperplasia.
Findings:
- No recurrence or developmental insufficiency was observed in patients during 1-5 years of follow-up.
- Prophylactic thyroidectomy effectively identified and addressed pre-malignant or malignant conditions in all cases.
- The procedure was performed on otherwise healthy children, highlighting the importance of early genetic screening.
Implications:
- Genetic screening and prophylactic thyroidectomy are crucial for managing MEN 2, significantly reducing MTC mortality.
- Early surgical intervention in genetically identified individuals can prevent the development of lethal MTC.
- Treatment of MEN 2 patients requires specialized multidisciplinary centers due to the complexity and ethical considerations.