title: Dual lympho-myeloproliferative disorder in a patient with t(8;22) with BCR-FGFR1 gene fusion.
abstract: The case of a patient presenting with a myeloproliferative disorder (MPD) characterized by a t(8;22) (p12;q11) translocation was investigated. The rearrangement resulted in the production of BCR-FGFR1 and FGFR1-BCR chimeric transcripts after in-frame fusions of BCR exon 4 with FGFR1 exon 9 and FGFR1 exon 8 with BCR exon 5, respectively. The four previously reported patients with such translocation presented with an atypical chronic myeloid leukemia (CML) without Philadelphia chromosome. In addition to a myeloproliferation, the patient had a B cell proliferation. The phenotypic characterization of the lymphoid cells in the bone marrow showed a continuum of maturation from blast B cells to polyclonal lymphocytes. In the blood, B cells showed a complete polyclonal maturation. The BCR-FGFR1 gene fusion was detected by dual-color fluorescence in situ hybridization in both CD19- and CD19+ populations. In contrast to the other FGFR1-MPDs that show myeloid and T cell proliferation, we propose that this t(8;22) MPD is a myeloid and B cell disease, and potentially a novel type of hematological disease. Although the FGFR1-MPD is rare, its study provides interesting clues to the understanding of hematopoietic stem cell biology and oncogene activation.
authors.affiliation: Department of Molecular Oncology, Marseille Cancer Institute, UMR599 Inserm and Paoli-Calmettes Institute, Marseille, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Murati
authors.forename: Christine
authors.initials: C
authors.lastname: Arnoulet
authors.forename: Marina
authors.initials: M
authors.lastname: Lafage-Pochitaloff
authors.forename: José
authors.initials: J
authors.lastname: Adélaide
authors.forename: Martine
authors.initials: M
authors.lastname: Derré
authors.forename: Borhane
authors.initials: B
authors.lastname: Slama
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Delaval
authors.forename: Cornel
authors.initials: C
authors.lastname: Popovici
authors.forename: Norbert
authors.initials: N
authors.lastname: Vey
authors.forename: Luc
authors.initials: L
authors.lastname: Xerri
authors.forename: Marie-Joelle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Olivier
authors.initials: O
authors.lastname: Boulat
authors.forename: Danielle
authors.initials: D
authors.lastname: Sainty
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Max
authors.initials: M
authors.lastname: Chaffanet
mesh_terms: D000368:Aged; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D016130:Immunophenotyping; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D009196:Myeloproliferative Disorders / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051562:Proto-Oncogene Proteins c-bcr; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D011518:Proto-Oncogene Proteins; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr