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