Documentation of Burkitt lymphoma with t(8;14) (q24;q32) in X-linked lymphoproliferative disease

Acquired hypogammaglobulinemia or agammaglobulinemia, aplastic anemia, chronic or fatal infectious mononucleosis (IM), virus-associated hemophagocytic syndrome, and a variety of B-cell malignant lymphomas (ML) develop in boys with X-linked lymphoproliferative disease (XLP) after infection by the Epstein-Barr virus (EBV). They have an inherited immunodeficiency to EBV. Approximately 80% of the patients die during childhood and 100% by the age of 40. The ML occurring in patients with XLP are different from those of other populations in that there is a maternal family history of males with phenotypes of XLP, particularly ML involving the ileocecal region. This article describes two brothers with XLP in whom ML developed. Also, a maternally related male cousin had died of aplastic anemia complicating IM. A Burkitt lymphoma (BL)-specific translocation of t(8;14) (q24;q32) was observed in the BL cells of the younger brother. The histopathologic appearance and rapid relapse after complete remission in the patient also are suggestive of this aggressive phenotype. This tumor in the patient documents that the BL of patients with XLP probably arises from characteristic tumor-specific chromosomal translocations, as hypothesized in 1980