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Malignancies in pediatric patients with ataxia telangiectasia

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Background. Patients with ataxia telangiectasia (AT), known to have an inherent increased susceptibility to the development of cancer, may present with malignancies that are unusual for the patient's age, are often difficult to diagnose clinically and radiographically and respond poorly to conventional therapy. Materials and methods. We reviewed the clinical presentation and imaging studies of 12 AT patients who developed malignancies. Results. Eight of the twelve patients developed non-Hodgkin's lymphoma (CNS, thorax, bone), two developed Hodgkin's disease, and two were diagnosed with gastrointestinal mucinous adenocarcinoma. Conclusion. The lymphomas were commonly extra nodal, and infiltrative rather than mass-like. The recognition of the tumors was often delayed due to confusion with the known infectious complications in AT patients.

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Received: 28 July 1998 Accepted: 13 October 1998

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Murphy, R., Berdon, W., Ruzal-Shapiro, C. et al. Malignancies in pediatric patients with ataxia telangiectasia. Pediatric Radiology 29, 225–230 (1999).

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