title: A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene.
abstract: We describe here the first case of 8p11 myeloproliferative syndrome (EMS) with t(8;9)(p11;q33), who unusually demonstrated B-lymphoblastic/monoblastic biphenotypic transformation. A 57-year-old woman was admitted because of leukocytosis and diagnosed as EMS. Bone marrow was infiltrated with myeloperoxidase (MPO)-, CD10+, CD19+, CD20+, CD34+, HLA-DR+ small lymphoblasts and MPO+, CD2+, CD4+, CD13+, CD14+, CD33+, HLA-DR+ large monoblasts. The karyotype was 46,XX,t(8;9)(p11;q33)[20] and the CEP1/FGFR1 fusion transcript between CEP1 exon 38 and FGFR1 exon 9 was detected. This case clearly indicates that the blastic transformation in EMS with t(8;9) could arise in the stem cells, which differentiate into not only myelomonocytic but also B-lymphocytic lineages.
authors.affiliation: Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, Kusunoki-cho, Chuo-ku, Kobe, Japan.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kawano
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nishikawa
authors.forename: Kimikazu
authors.initials: K
authors.lastname: Yakushijin
authors.forename: Atsuo
authors.initials: A
authors.lastname: Okamura
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Matsui
mesh_terms: D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000276:immunology; D016133:Polymerase Chain Reaction; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D014170:Transformation, Genetic
chemical_list: C474898:CNTRL protein, human; D018797:Cell Cycle Proteins; D017931:DNA Primers; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1