Journal
PEDIATRIC BLOOD & CANCER
Volume 50, Issue 5, Pages 1058-1060Publisher
WILEY
DOI: 10.1002/pbc.21016
Keywords
ataxia-telangiectasia; cancer predisposition; DNA damage; thyroid carcinoma
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A 9-year-old female with ataxia-telangiectasia (AT) presenting with papillary thyroid carcinoma and lymph nodes involvement is reported. We discuss this novel association the general risk of neoplasic complications in these patients, the natural history of thyroid carcinoma in the pediatric population and the potential link between thyroid carcinogenesis and ataxia-telangiectasia mutated gene (ATM) mutation. We also expose our therapeutic attitude, according to both clinical status and particular genetic background of our patient.
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