Malignancies in pediatric patients with ataxia telangiectasia

Background. Patients with ataxia telangiectasia (AT), known to have an inhe rent increased susceptibility to the development of cancer, may present wit h malignancies that are unusual for the patient's age, are often difficult to diagnose clinically and radiographically and respond poorly to conventio nal therapy. Materials and methods. We reviewed the clinical presentation and imaging st udies of 12 AT patients who developed malignancies. Results. Eight of the t welve patients developed non-Hodgkin's lymphoma (CNS, thorax, bone), two de veloped Hodgkin's disease, and two were diagnosed with gastrointestinal muc inous adenocarcinoma. Conclusion. The lymphomas were commonly extra nodal, and infiltrative rathe r than mass-like. The recognition of the tumors was often delayed due to co nfusion with the known infectious complications in AT patients.