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Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia
Authors:Brasseur Benoit  Beauloye Véronique  Chantrain Christophe  Daumerie Chantal  Vermylen Christiane  Waignein Frédéric  Brichard Bénédicte
Affiliation:Department of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.
Abstract: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.
Keywords:ataxia‐telangiectasia  cancer predisposition  DNA damage  thyroid carcinoma
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