Malignancy in Common Variable Immune Deficiency: Report of Two Rare Cases of Gastrointestinal Malignancy and a Review of the Literature

Abstract

Patients can develop malignancies due to various reasons including genetic factors, chemical carcinogens, radiation, and defects in their immune system. The immune system is postulated to carry out routine surveillance for malignancy. Patients who have defective immune responses may be susceptible to malignancies due to complicated underlying mechanisms. These include defective immune response to cancer-causing bacteria, transforming viruses, and concomitant molecular, cellular and immunoregulatory defects. Common variable immune deficiency (CVID) is characterized by hypogammaglobulinemia, impaired antibody responses and an increased susceptibility to infections. A disorderly immune response, or immune dysregulation, may also lead to autoimmune complications and possibly to malignancy. The treatment of CVID involves infusion of replacement doses of immunoglobulin, either intravenously (IGIV) or subcutaneously (SCIG). However, it is unclear whether adequate replacement of immunoglobulins is sufficient to prevent the increased risk of malignancy seen in this disease. We present two cases of unusual solid tumors complicating CVID treated with adequate doses of intravenous immunoglobulins. In this study we review the occurrence of malignancy in patients with CVID and postulate mechanisms that may be involved indigent to this disease. We will also review the role of replacement immunoglobulin and discuss cancer screening in these high risk individuals.

Review article: antitumoural immunity in colorectal cancer – current and potential future implications in clinical practice

“…14 Furthermore, patients with common variable immune deficiency have an impaired immune response, which may lead to malignancy. 15 An increased incidence of cancers in patients taking immunosuppressive drugs has been reported for more than 30 years. Early studies described an increased risk of non-Hodgkin lymphoma and skin cancers in renal transplant recipients and patients under immunosuppressive treatments.…”

“…These cancers can be related to latent infections by oncogenic viruses (Human herpesvirus‐8, Ebstein‐Barr virus, human papilloma virus, hepatitis B and hepatitis C viruses) . Furthermore, patients with common variable immune deficiency have an impaired immune response, which may lead to malignancy …”

Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans

“…The 76 publications identified 14–89 included 149 cases in which both IEIs and gastrointestinal cancers had been diagnosed. A summary of the clinical characteristics of the patients concerned is provided in Figure 1.…”