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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.
Lakartidningen
|July 21, 2001
Summary
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.