title: Multiple telomeric aberrations in a telomerase-positive leukemia patient.
abstract: Bone marrow samples from a pancytopenia/leukemia patient were routinely analyzed at first and second admission. At the first presentation, the karyotype was normal, whereas 17 months later several chromosome aberrations were recognized including presumed additions to the short arms of chromosomes 1 and 16 in all cells, and numerous other aberrations in subpopulations of cells. From the predominance of aberrations at chromosome ends, we suspected insufficient telomere maintenance as an underlying mechanism behind the karyotype changes, in particular as an interstitial deletion in the region harboring the gene for the RNA component (hTERC) of the telomerase enzyme was also noticed; however, while molecular cytogenetic investigation confirmed the terminal aberrations, we found the malignant cells positive for telomerase activity and the presence of an hTERC gene on both chromosomes 3. A presumed chromosome 1 addition turned out to reflect an amplification of a tandemly repeated sequence element. Labeling of multiple tandem repeat sequences in situ by a novel multicolor primed in situ hybridization showed no evidence of instability of other repeated DNA elements.
authors.affiliation: Cancer Cytogenetics Laboratory, Department of Hematology, Aarhus Amtssygehus, DK-8000, Aarhus C., Denmark.
authors.forename: Nedime
authors.initials: N
authors.lastname: Serakinci
authors.forename: Mette
authors.initials: M
authors.lastname: Østergaard
authors.forename: Herdis
authors.initials: H
authors.lastname: Larsen
authors.forename: Bente
authors.initials: B
authors.lastname: Madsen
authors.forename: Bent
authors.initials: B
authors.lastname: Pedersen
authors.forename: Jørn
authors.initials: J
authors.lastname: Koch
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007938:Leukemia / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D019098:Telomerase / Q000378:metabolism*; D016615:Telomere / Q000235:genetics*
chemical_list: D019098:Telomerase