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Documentation of Burkitt lymphoma with t(8;14) (q24;q32) in X-linked lymphoproliferative disease
R M Egeler1, J de Kraker, R Slater
1Emma Kinderziekenhuis/het Kinder AMC, Department of Pediatric Oncology, Academical Medical Center, Amsterdam, The Netherlands.
Background:
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.
Methods:
This article describes two brothers with XLP in whom ML developed. Also, a maternally related male cousin had died of aplastic anemia complicating IM.
Results:
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.
Conclusions:
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.