title: Cell lineage involvement in four patients with myelodysplastic syndrome and t(1;7) or trisomy 8 studied by simultaneous immunophenotyping and fluorescence in situ hybridization.
abstract: Four patients with myelodysplastic syndrome (MDS), one with t(1;7) and three with trisomy 8, were studied by immunophenotyping and fluorescence in situ hybridization (FISH) to assess cell lineage involvement. The t(1;7) was detected using a biotin-labeled chromosome 1 centromere-specific DNA probe. This aberration was present in CD34-positive stem cells, the erythroid cell lineage (GPA+), and the granulocytic/monocytic (CD13+ and CD64+) cell lineages. We were not able to demonstrate the abnormality in the lymphoid cell lineages. In the patients with trisomy 8, the aberration was detected with chromosome 8 centromere-specific DNA probe or by chromosome in situ suppression hybridization (CISS) with a chromosome 8-specific library probe. The trisomy was detected in stem cells, erythroid precursor cells, megakaryocytes, and granulocytes/monocytes. In these MDS patients, the chromosome aberrations appear to occur only in cells of myeloid lineage.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: S J
authors.initials: SJ
authors.lastname: Nylund
authors.forename: W
authors.initials: W
authors.lastname: Verbeek
authors.forename: M L
authors.initials: ML
authors.lastname: Larramendy
authors.forename: T
authors.initials: T
authors.lastname: Ruutu
authors.forename: K
authors.initials: K
authors.lastname: Heinonen
authors.forename: H
authors.initials: H
authors.lastname: Hallman
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000368:Aged; D015703:Antigens, CD / Q000096:biosynthesis; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D015342:DNA Probes; D015672:Erythroid Precursor Cells / Q000737:chemistry / Q000648:ultrastructure; D005260:Female; D015723:Gene Library; D006021:Glycophorins / Q000032:analysis; D006098:Granulocytes / Q000276:immunology / Q000648:ultrastructure; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008533:Megakaryocytes / Q000648:ultrastructure; D008875:Middle Aged; D009000:Monocytes / Q000276:immunology / Q000648:ultrastructure; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000276:immunology; D013234:Stem Cells / Q000276:immunology / Q000648:ultrastructure; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D015703:Antigens, CD; D015342:DNA Probes; D006021:Glycophorins