title: Detection of trisomy 8 in hematological disorders by in situ hybridization.
abstract: An alphoid repetitive DNA (D8Z2) probe specific for the pericentromeric region of chromosome 8 was used to detect extra copies of chromosome 8 in bone marrow cells obtained from 10 patients with hematological disorders and five controls. Numerical aberrations of chromosome 8 were established by conventional banding techniques. Trisomy 8 was found in four patients with myelodysplastic syndrome (MDS) and three with acute myeloid leukemia (AML). Three additional patients with MDS exhibited an extra chromosome 8 in only one metaphase. In five of the seven trisomy cases, the presence of the trisomy 8 clone was confirmed by in situ hybridization (ISH). In one case of AML with trisomy 8, detected by GTG-banding, no significant numbers of cells containing three spots were found using the alphoid repetitive probe; however, hybridization with a chromosome 8-specific library revealed that the alleged extra chromosome 8 was a translocation chromosome containing only the long arm of chromosome 8. Due to a lack of material, it was not possible to achieve optimal ISH results on the trisomy 8 bone marrow cells of patient 7. In the three MDS patients with a single trisomy 8 metaphase, a slight, albeit significant, increase of trisomy 8 interphase cells was found with ISH. We conclude that this probe is useful for cytogenetic studies. Moreover, ISH, in general, is a powerful tool for precise classification of chromosomal aberrations and can also contribute significantly to the clinical evaluation of patients with hematological disorders.
authors.affiliation: Department of Pathology, State University of Leiden, The Netherlands.
authors.forename: R E
authors.initials: RE
authors.lastname: Kibbelaar
authors.forename: H
authors.initials: H
authors.lastname: van Kamp
authors.forename: E J
authors.initials: EJ
authors.lastname: Dreef
authors.forename: J W
authors.initials: JW
authors.lastname: Wessels
authors.forename: G C
authors.initials: GC
authors.lastname: Beverstock
authors.forename: A K
authors.initials: AK
authors.lastname: Raap
authors.forename: W E
authors.initials: WE
authors.lastname: Fibbe
authors.forename: G J
authors.initials: GJ
authors.lastname: den Ottolander
authors.forename: P M
authors.initials: PM
authors.lastname: Kluin
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D015342:DNA Probes; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D008856:Microscopy, Fluorescence; D009693:Nucleic Acid Hybridization; D012091:Repetitive Sequences, Nucleic Acid; D014314:Trisomy
chemical_list: D015342:DNA Probes