Systemic Epstein-Barr Virus-Positive T-cell Lymphoproliferative Disease of Childhood Presenting as Hemophagocytic Lymphohistiocytosis with Chromosomal Abnormalities / 임상검사와정도관리

ABSTRACT

Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease (EBV+ T-cell LPD) is characterized by a clonal proliferation of T-cells, which may trigger hemophagocytic lymphohistiocytosis (HLH). Chromosomal abnormalities in patients with HLH are usually found in association with underlying malignancies. We report here a case of systemic EBV+ T-cell LPD of childhood initially presenting with HLH. A 19-year-old man was admitted to the hospital with a 2-week history of fever. Laboratory data revealed pancytopenia, hypertriglyceridemia, high ferritin levels, and abnormalities in liver function tests. EBV infection was confirmed by serologic tests and real-time polymerase chain reaction. Examination of the bone marrow showed histiocytic hyperplasia and hemophagocytosis. Further investigation revealed atypical lymphoid cells expressing EBV-encoded RNA, CD3, CD4, and CD8. A chromosomal analysis displayed a complex karyotype. Despite intensive treatment, the patient died 15 days after initial presentation. In conclusion, systemic EBV+ T-cell LPD of childhood presenting with HLH and chromosomal abnormalities may progress rapidly and be fatal. Therefore, a diagnostic workup for chromosomal aberration is essential.