Development of Two Monoclonal B-Cell Lymphomas in a Patient with Wiskott-Aldrich Syndrome

Abstract

Approximately 15% of patients with Wiskott-Aldrich syndrome (WAS) develop malignant lymphomas. Both Epstein-Barr (EBV)-specific cellular and humoral immune defects were detected in a 13-year-old male patient who succumbed one year later to a lymphoproliferative disease involving lungs, hilar and mesenteric lymph nodes. A large cell lymphoma was found in the hilar lymph nodes. The lungs and mesenteric lymph nodes were infiltrated by a polymorphic population of lymphoid cells. Autopsy-derived specimens from spleen, liver, heart, lung, mediastinal and abdominal lymph nodes were examined. DNA isolated from tissues was tested for clonal rearrangement of joining region (J_H) and constant mu (C^µ) region of immunoglobulin heavy chain and constant kappa (C^K) region of immunoglobulin light chain by Southern blot hybridization. Two dominant clones with J_H rearranged in different positions were found.