Malignancies in Primary Immunodeficiencies: A Single Center Experience

Background and Aim: Primary immunodeficiencies (PIDs) are genetic disorders that predispose patients to recurrent infections, autoimmunity, and malignancy. This study aimed to investigate the clinical and histopathological characteristics of malignancies in PIDs. Materials and Methods: Herein, 11 malignancies in patients (1 boy, 10 girls) with PIDs are presented dating between 1996 and 2014. The patients were analyzed retrospectively. Results: In this 18-year period, 450 patients were diagnosed as having PIDs, and there were 11 cancer cases associated with PIDs. The age of patients ranged from 3 to 20 years with a mean of 10.5 +/- 6 years at the time of diagnosis of malignancies. Lymphomas were observed in 73% (8/11) of patients. Non-Hodgkin's lymphomas (NHL) and Hodgkin's lymphomas (HL) were seen in 63% (5/8) and 37% (3/8) of patients, respectively. The diagnosis of malignancies in five patients (45%; 5/11) was diffuse large B-cell lymphoma (DLBCL), with three of them having T-cell defects of unknown etiology (idiopathic CD4 lymphopenia [ICL]), and two of them having ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS). The remaining malignancies in six patients were HL in three patients with A-T, ICL, and XMEN syndrome, acute myeloblastic leukemia (AML) in a patient with Chediak-Higashi syndrome, osteosarcoma (OS) in a patient with Bloom's syndrome, and gastric signet ring carcinoma in a patient with A-T. Conclusion: Eleven children experienced lymphoreticular malignancies. including NHL, HL, and AML. Clinicians must be vigilant about this association, and it should warrant close follow-up.