الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Genetic testing in MEN2 families plays a fundamental role in early diagnosis, risk stratification in developing MTC and in deciding for the best timing for thyroidectomy. To maximise benefits of Precision Medicine, treatment should be delivered timely and with Surgical Precision minimising risks of complications and achieving best long terms outcomes.
The aim of this study was to assess the outcomes of prophylactic TT for MEN2-related MTC with different RET mutations. Retrospective analysis of 98 children who carried RET mutation characteristic of MEN2. All subjects already underwent TT in the previous twenty years. Data collected includes type of codon mutation, timing & extent of surgery, complications, pathological analysis and outcome of surgery.
This study showed the median ages at genetic testing and the time of surgery to be 4.08 and 5.73 years respectively. Early genetic testing was an important and significant factor resulting in having the surgery early at the recommended age. Preoperative Ctn levels were above normal range in 59 cases (60.2%). ND alongside the TT were significantly higher in higher-risk groups (p <0.001). Post-operative complications and length of hospital stay were significantly higher in patients who underwent ND rather than TT alone. Eighteen children (18.4 %) had a postoperative Ctn level above normal range on at least one occasion. Only three children had Ctn levels more than 40 pg/ml and all of them showed clinical signs of recurrence and they all had MEN2B in the ATA-HST group.
In conclusion, this study demonstrated that late genetic testing was the main cause of late surgical intervention, thus increasing the complications of surgical intervention after the development of MTC. Early genetic testing and age-appropriate surgery will help in avoiding unnecessary lymphadenectomy, complications and will subsequently improve outcomes.