Advanced

The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells

Gisselsson Nord, David LU ; Höglund, Mattias LU ; Mertens, Fredrik LU ; Johansson, Bertil LU ; Dal Cin, Paola; Van den Berghe, Herman; Earnshaw, William C; Mitelman, Felix LU and Mandahl, Nils LU (1999) In Human Genetics 104(4). p.315-325
Abstract
Acquired ring chromosomes have been found in most types of human neoplasia, with a frequency approaching 10% in malignant mesenchymal tumours. In this study, the composition and dynamics of ring chromosomes were analysed in eight cases of acute myelogenous leukaemia, 17 solid tumours, and five cases with constitutional rings. Chromosomal banding and fluorescence in situ hybridisation were performed to determine the content and the structural heterogeneity of the rings. Telomeric repeats were detected using peptide nucleic acid probes or primed in situ labelling, whereas centromeric activity was evaluated by detection of kinetochore proteins. Mitotic instability was assessed by the frequency of anaphase bridges. The results suggest that... (More)
Acquired ring chromosomes have been found in most types of human neoplasia, with a frequency approaching 10% in malignant mesenchymal tumours. In this study, the composition and dynamics of ring chromosomes were analysed in eight cases of acute myelogenous leukaemia, 17 solid tumours, and five cases with constitutional rings. Chromosomal banding and fluorescence in situ hybridisation were performed to determine the content and the structural heterogeneity of the rings. Telomeric repeats were detected using peptide nucleic acid probes or primed in situ labelling, whereas centromeric activity was evaluated by detection of kinetochore proteins. Mitotic instability was assessed by the frequency of anaphase bridges. The results suggest that human ring chromosomes can be structurally and functionally divided into two categories. In the first of these, size variation is minimal and rearrangement at cell division is uncommon. The majority of such rings contain subtelomeric sequences. Constitutional ring chromosomes and most rings in leukaemias belong to this group, whereas only a few mesenchymal tumours exhibit rings of this type. The second category consists of rings with amplified sequences, primarily from chromosome 12, characteristically occurring in atypical lipomatous tumours and other subtypes of low or borderline malignant mesenchymal neoplasms. Variation in size and number is extensive, and breakage-fusion-bridge events occur at a high frequency. Abnormalities in pericentromeric sequences are common and, in some cases, kinetochores assemble in the absence of alphoid DNA. We conclude that it is not only the ring structure per se or the neoplastic nature of the host cell that determines ring instability, but probably also the functional role of the genes carried in the ring. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
104
issue
4
pages
315 - 325
publisher
Springer
external identifiers
  • pmid:10369161
  • scopus:0345711466
ISSN
1432-1203
DOI
10.1007/s004390050960
language
English
LU publication?
yes
id
5bc95678-bfa1-40ed-904f-0d80682b8c6a (old id 1115087)
date added to LUP
2008-07-07 13:59:17
date last changed
2017-02-26 04:11:41
@article{5bc95678-bfa1-40ed-904f-0d80682b8c6a,
  abstract     = {Acquired ring chromosomes have been found in most types of human neoplasia, with a frequency approaching 10% in malignant mesenchymal tumours. In this study, the composition and dynamics of ring chromosomes were analysed in eight cases of acute myelogenous leukaemia, 17 solid tumours, and five cases with constitutional rings. Chromosomal banding and fluorescence in situ hybridisation were performed to determine the content and the structural heterogeneity of the rings. Telomeric repeats were detected using peptide nucleic acid probes or primed in situ labelling, whereas centromeric activity was evaluated by detection of kinetochore proteins. Mitotic instability was assessed by the frequency of anaphase bridges. The results suggest that human ring chromosomes can be structurally and functionally divided into two categories. In the first of these, size variation is minimal and rearrangement at cell division is uncommon. The majority of such rings contain subtelomeric sequences. Constitutional ring chromosomes and most rings in leukaemias belong to this group, whereas only a few mesenchymal tumours exhibit rings of this type. The second category consists of rings with amplified sequences, primarily from chromosome 12, characteristically occurring in atypical lipomatous tumours and other subtypes of low or borderline malignant mesenchymal neoplasms. Variation in size and number is extensive, and breakage-fusion-bridge events occur at a high frequency. Abnormalities in pericentromeric sequences are common and, in some cases, kinetochores assemble in the absence of alphoid DNA. We conclude that it is not only the ring structure per se or the neoplastic nature of the host cell that determines ring instability, but probably also the functional role of the genes carried in the ring.},
  author       = {Gisselsson Nord, David and Höglund, Mattias and Mertens, Fredrik and Johansson, Bertil and Dal Cin, Paola and Van den Berghe, Herman and Earnshaw, William C and Mitelman, Felix and Mandahl, Nils},
  issn         = {1432-1203},
  language     = {eng},
  number       = {4},
  pages        = {315--325},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells},
  url          = {http://dx.doi.org/10.1007/s004390050960},
  volume       = {104},
  year         = {1999},
}