The primary immunodeficiency disorders(PID) are associated with elevated risks for recurrent infections, autoimmunity, and types of cancer. The degree of tumor pre-disposition and underlying mechanisms involved are diverse among different categories of PID. The aim of this study is to evaluate the malignancies that develop particularly in clinical course of PIDs.
In this cross-sectional retrospective study, we evaluated the PID patients who developed malignancy followed at the departments of Immunology and Oncology between 2008-2018. We searched for the type of PID and malignancy, epidemiological data, clinical and laboratory findings, histopathological characteristics, treatment and outcomes of patients through their hospital records.
There were five cases of malignancies (3 males/2 females) associated with PIDs. The mean age at first admission, PID diagnosis and occurrence of malignancy were 7.2±2.7, 8.2±2.1 and 10.6±2.4 years respectively. Two patients diagnosed with autosomal recessive hyper-IgE syndrome developed stage IV gastrointestinal stromal tumor and human papillomavirus-associated squamous cell carcinoma, other two sisters with ataxia-telangiectasia developed stage IIIA nodular sclerosis classical Hodgkin lymphoma and hepatocellular carcinoma in the clinical course. Stage IA EBV-associated classical Hodgkin lymphoma was defined on another patient genetically diagnosed with CD137 deficiency recently. Three of these patients were died within the first year after cancer diagnosis.
Deep study of these situations may lead to the earlier diagnosis of disease, choosing the best treatment modalities available and development of novel therapeutic strategies to decrease morbidity and mortality. The clinicians must be vigilant about the association between immunodeficiency and tumor susceptibility which are two closely intertwined concepts.