Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia

Benoit Brasseur; Véronique Beauloye; Christophe Chantrain; Chantal Daumerie; Christiane Vermylen; Frédéric Waignein; Bénédicte Brichard

doi:10.1002/pbc.21016

Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia

Pediatr Blood Cancer. 2008 May;50(5):1058-60. doi: 10.1002/pbc.21016.

Authors

Benoit Brasseur¹, Véronique Beauloye, Christophe Chantrain, Chantal Daumerie, Christiane Vermylen, Frédéric Waignein, Bénédicte Brichard

Affiliation

¹ Department of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.

PMID: 16917912
DOI: 10.1002/pbc.21016

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.

Publication types

Case Reports

MeSH terms

Ataxia Telangiectasia / complications*
Ataxia Telangiectasia / genetics
Ataxia Telangiectasia / pathology
Ataxia Telangiectasia Mutated Proteins
Carcinoma, Papillary / diagnosis
Carcinoma, Papillary / etiology*
Cell Cycle Proteins / genetics
Child
DNA-Binding Proteins / genetics
Female
Humans
Mutation / genetics
Protein Serine-Threonine Kinases / genetics
Thyroid Neoplasms / diagnosis
Thyroid Neoplasms / etiology*
Tumor Suppressor Proteins / genetics

Substances

Cell Cycle Proteins
DNA-Binding Proteins
Tumor Suppressor Proteins
ATM protein, human
Ataxia Telangiectasia Mutated Proteins
Protein Serine-Threonine Kinases