title: Fatal Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis with clonal karyotype abnormality.
abstract: We report a case of Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (HLH) with clonal karyotype abnormality. A 5-year-old boy was admitted to our hospital with persistent high-grade fever, hepatomegaly, and pancytopenia. Laboratory data disclosed a coagulation abnormality and severe liver damage. Clonal proliferation of EBV-infected cells was detected in the bone marrow by Southern hybridization, and bone marrow cells exhibited clonal chromosomal abnormality. Although the patient was treated with immunochemotherapy according to the HLH94 protocol, the disease recurred during the induction therapy, and the patient died of disseminated intravascular coagulopathy. Considering this aggressive and fatal clinical course, it is important to take intensive therapeutic measures if karyotype abnormality is noted in the treatment of EBV-HLH patients.
authors.affiliation: Department of Pediatrics, Hirosaki University School of Medicine, Japan. eturou@cc.hirosaki-u.ac.jp
authors.forename: E
authors.initials: E
authors.lastname: Ito
authors.forename: J
authors.initials: J
authors.lastname: Kitazawa
authors.forename: K
authors.initials: K
authors.lastname: Arai
authors.forename: H
authors.initials: H
authors.lastname: Otomo
authors.forename: Y
authors.initials: Y
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Imashuku
authors.forename: M
authors.initials: M
authors.lastname: Yokoyama
mesh_terms: D001854:Bone Marrow Cells / Q000821:virology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002999:Clone Cells; D017809:Fatal Outcome; D006566:Herpesviridae Infections / Q000150:complications* / Q000235:genetics / Q000473:pathology; D004854:Herpesvirus 4, Human; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000821:virology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D014412:Tumor Virus Infections / Q000150:complications / Q000235:genetics / Q000473:pathology