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.