17 research outputs found
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2
Background
In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary thyroid cancer (MTC) and informs the timing of thyroidectomy. The efficacy of treatment, which depends on timely and safe surgery, is not well established.
Methods
This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy in children with MEN2 between 1995 and 2013 in the UK. American Thyroid Association (ATA) 2009 guidelines were used as a benchmark for adequate treatment.
Results
Seventy鈥恘ine children from 16 centres underwent total thyroidectomy. Thirty鈥恊ight patients (48 per cent) underwent genetic testing and 36 (46 per cent) had an operation performed above the age recommended by the ATA 2009 guidelines; pathology showed MTC in 30 patients (38 per cent). Late surgery, above鈥恘ormal preoperative calcitonin level and MTC on pathology correlated with late genetic testing. Twenty鈥恌ive children had lymphadenectomy; these patients had more parathyroid glands excised (mean difference 0路61, 95 per cent c.i. 0路24 to 0路98; P = 0路001), and were more likely to have hypocalcaemia requiring medication (relative risk (RR) 3路12, 95 per cent c.i. 1路54 to 6路32; P = 0路002) and permanent hypoparathyroidism (RR 3路24, 1路29 to 8路11; P = 0路010) compared with those who underwent total thyroidectomy alone. Age did not influence the development of complications.
Conclusion
Late genetic testing may preclude age鈥恆ppropriate surgery, increasing the risk of operating when MTC has already developed. Early genetic testing and age鈥恆ppropriate surgery may help avoid unnecessary lymphadenectomy and improve outcomes