Wiskott–Aldrich syndrome (WAS) is an X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and immune dysregulation. It confers an increased risk of hematologic malignancies, particularly aggressive B cell lymphomas, whose classification may be challenging in the setting of immunodeficiency.
We report the case of a 13-year-old boy with genetically confirmed WAS, receiving regular intravenous immunoglobulin replacement along with anti-infective prophylaxis. His family history was notable for a mother treated for colon cancer with surgery and chemotherapy, currently on azathioprine for chronic inflammatory colitis. He was admitted for abdominal pain with constipation, without cessation of stool or gas. Physical examination revealed a palpable mass in the left flank and iliac fossa. Imaging revealed a 6-cm hypermetabolic left abdominopelvic mass with peritoneal infiltration and multi-organ involvement (renal, thymic, nodal, and osseous). Histopathology showed diffuse proliferation of medium to large atypical B cells. Immunohistochemistry demonstrated CD20 and CD10 positivity, heterogeneous BCL2 expression, and a Ki-67 proliferation index of approximately 10%. These findings did not allow definitive differentiation between Burkitt lymphoma and high-grade diffuse large B cell lymphoma (DLBCL). Fluorescence in situ hybridization (FISH) analysis showed no MYC rearrangement, making classical Burkitt lymphoma unlikely. Haploidentical hematopoietic stem cell transplantation (HSCT) was planned after the treatment of lymphoma.
This case illustrates the aggressive oncologic evolution of Wiskott–Aldrich syndrome and highlights the diagnostic complexity between Burkitt lymphoma and DLBCL in immunodeficiency-associated lymphomas. Cytogenetic analysis is essential for accurate classification and therapeutic decision-making. Early curative hematopoietic stem cell transplantation even from an alternative donor remains crucial in WAS to prevent life-threatening complications, including malignancy.
