Multiple malignancies in a female patient with common variable immunodeficiency syndrome

Area of Science:

• Immunology
• Oncology
• Medical Case Reports

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired antibody production, leading to recurrent infections.
• Patients with CVID have an increased risk of autoimmune diseases and certain malignancies, particularly lymphoid cancers.
• The association between CVID and a broad spectrum of solid tumors and hematologic malignancies requires further investigation.

Observation:

• A 55-year-old woman with a history of uterine adenocarcinoma, multiple basal cell carcinomas, and systemic granulomatous disease presented with recurrent infections due to CVID.
• She was diagnosed with diffuse large B cell lymphoma (DLBCL), successfully treated with R-CHOP chemotherapy and immunoglobulin replacement therapy.
• Despite achieving lymphoma remission and controlling infections for over 20 months, she subsequently developed colorectal adenocarcinoma.

Findings:

• This case represents the first documented instance of common variable immunodeficiency (CVID) associated with multiple distinct solid tumors (uterine adenocarcinoma, basal cell carcinoma, colorectal adenocarcinoma) and diffuse large B cell lymphoma (DLBCL).
• The patient's history underscores the complex interplay between immunodeficiency, autoimmune phenomena, and oncogenesis.
• Successful management of DLBCL and infectious complications was achieved despite underlying CVID.

Implications:

• This case expands the known spectrum of CVID-associated malignancies, suggesting a potential predisposition to both lymphoid and epithelial cancers.
• It highlights the importance of vigilant cancer screening in patients with primary immunodeficiencies.
• Further research is warranted to elucidate the specific mechanisms linking CVID to the development of diverse cancers.