title: Clonal and non-clonal karyotypically abnormal cells in haemophagocytic lymphohistiocytosis.
abstract: We studied chromosomes in bone marrow (BM) or peripheral blood cells of nine patients with haemophagocytic lymphohistiocytosis (HLH); three of them had a family history of HLH and four others underwent concurrent Epstein-Barr virus (EBV) infection. In addition to a large population of normal mitotic cells, karyotypically abnormal clonal cells were found in two patients, abnormal clonal cells and a nonclonal (single) abnormal cell in one, and nonclonal abnormal cells in three. All the six patients with chromosome abnormalities died of progressive disease; one of them also had EBV infection and EBV-associated clonal proliferation. Two of three patients with EBV infection and only normal mitotic cells in BM completely recovered from the disease. Although HLH did not show histological and/or haematological evidence of a neoplastic disease, clonal chromosome abnormalities and the fatal clinical outcome found in some of the patients suggest that the disease may be heterogenous and include malignancy. HLH patients with karyotypically abnormal clonal cells in BM should warrant more intensive chemotherapy than that presently being applied to them and should be considered as candidates for BM transplantation.
authors.affiliation: Department of Cancer Chemotherapy, Saitama Cancer Centre Hospital, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
authors.forename: N
authors.initials: N
authors.lastname: Maseki
authors.forename: M
authors.initials: M
authors.lastname: Sakurai
authors.forename: M
authors.initials: M
authors.lastname: Ido
authors.forename: Y
authors.initials: Y
authors.lastname: Tsunematsu
authors.forename: S
authors.initials: S
authors.lastname: Mizutani
authors.forename: T
authors.initials: T
authors.lastname: Hattori
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: H
authors.initials: H
authors.lastname: Eguchi
authors.forename: T
authors.initials: T
authors.lastname: Oka
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002999:Clone Cells / Q000473:pathology; D005260:Female; D006566:Herpesviridae Infections / Q000150:complications; D004854:Herpesvirus 4, Human; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000473:pathology / Q000821:virology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D014412:Tumor Virus Infections / Q000150:complications