Background: We describe a familial lymphoproliferative syndrome associated with Epstein-Barr Virus (EBV) infection and the gamma delta phenotype.
Methods: We reviewed clinical, pathologic, immunologic, and virologic findings in a nonconsanguineous French family, collected over a 13-year period. Specimens from the father (autopsy), son (liver, lymph nodes, and pericardial effusion), and daughter (skin, liver, and digestive tract) were studied with conventional histologic and immunohistochemical techniques. Anti-EBV latent membrane protein (LMP) antibody and T-cell receptor (TCR) gene rearrangements were also studied in the daughter.
Results: The father and daughter had similar clinical and histologic features with maxilofacial, nasal, laryngeal, skin, lung, gastrointestinal, and liver involvement by a high grade large cell angiocentric T-cell lymphoma. The gamma delta phenotype and clonal rearrangement were identified in the daughter's tumor. At the time of his death from pericarditis, the son had a 5-year history of a recurrent hemophagocytic syndrome and lymphadenopathy. Chronic EBV infection was found in each case. EBV infection of the son was diagnosed by means of serologic tests and detection of the EBV genome in circulating lymphocytes, and in the father and daughter by use of an anti-LMP antibody. Its pathologic role is discussed.
Conclusion: This familial T-cell lymphoma syndrome associated with the gamma delta phenotype and an unusual location is an original clinical entity. Chronic EBV infection was present in each case, but its precise role remains to be determined.