It is known that patients with primary immunodeficiency (PID) are more prone to malignancies. In this report, we present six patients with different types of malignancies who had PID.
We retrospectively reviewed the files of 6 patients with malignancy who had suffered from PID before the development of the cancer. This study underwent in a tertiary pediatric hospital.
Six cases, 5 men and 1 female, were evaluated in this report. The mean age of the patients was 5 (ranged, 3 to 7) and 7 (ranged, 4 to 13) years at the time of PID and cancer diagnosis, respectively. There was one case of ataxia-telangiectasia with development of lymphoma. Two cases with squamous cell carcinoma (who was known as a genetic case of IKAROS deficiency) and Hodgkin lymphoma that had the previous diagnosis of common variable immunodeficiency. One case with Nijmegen breakage syndrome who developed non-Hodgkin lymphoma. One case with signal transducer and activator of transcription 3 (STAT3) deficiency that later progressed to large B cell lymphoma and the last case with agammaglobulinemia (autosomal recessive) that developed acute lymphoblastic leukemia. All patients were primarily diagnosed as PID before the development of malignancies except one case who had had Hodgkin lymphoma before the diagnosis of PID.
The result of this case series emphasizes the importance of early recognition of malignancy in children with PID and indeed the early recognition of PID in children with malignancy. The early diagnosis may improve the life expectancy and the quality of life in such patients.