Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia.
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.
Brasseur
Benoit
B
Department of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.
Beauloye
Véronique
V
Chantrain
Christophe
C
Daumerie
Chantal
C
Vermylen
Christiane
C
Waignein
Frédéric
F
Brichard
Bénédicte
B
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
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