title: Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia.
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.
authors.affiliation: Department of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.
authors.forename: Benoit
authors.initials: B
authors.lastname: Brasseur
authors.forename: Véronique
authors.initials: V
authors.lastname: Beauloye
authors.forename: Christophe
authors.initials: C
authors.lastname: Chantrain
authors.forename: Chantal
authors.initials: C
authors.lastname: Daumerie
authors.forename: Christiane
authors.initials: C
authors.lastname: Vermylen
authors.forename: Frédéric
authors.initials: F
authors.lastname: Waignein
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Brichard
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D064007:Ataxia Telangiectasia Mutated Proteins; D002291:Carcinoma, Papillary / Q000175:diagnosis / Q000209:etiology*; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000209:etiology*; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases