클론성 염색체이상을 보인 Epstein-Barr 바이러스 연관성 혈구탐식성림프조직구증 1예

Abstract

There have been few reports on chromosomal abnormalities in secondary hemophagocytic lymphohistiocytosis (HLH) including Epstein-Barr virus-associated HLH (EBV-HLH). Clonality of HLH can be determined by karyotypic analysis, T-cell receptor or IgH rearrangement studies, and EBV genome terminal repeat investigation. Chromosome analysis in EBV-HLH is the most important tool currently available for assessment of case-by-case prognosis. We report a case of fatal EBV-HLH with clonal karyotype abnormality. A 57-year-old man was admitted with persistent high fever and hepatosplenomegaly. Laboratory data revealed pancytopenia, hypofibrinogenemia, coagulation abnormalities, and marked abnormalities of liver function tests. EBV-DNA was detected in the bone marrow by PCR. The bone marrow studies showed mature, benign-looking histiocytic hyperplasia with prominent hemophagocytosis and clonal chromosomal abnormality. Although the patient was treated with immunochemotherapy and antibiotics, he died of disseminated intravascular coagulopathy and sepsis. Considering this fatal clinical course, it is important to take intensive therapeutic measures if karyotype abnormality is noted in the treatment of EBV-HLH cases.