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Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation.

Mertens, Fredrik LU ; Panagopoulos, Ioannis LU ; Jonson, Tord LU ; Gisselsson Nord, David LU ; Isaksson, Margareth LU ; Domanski, Henryk LU and Mandahl, Nils LU (2004) In Cytogenetic and Genome Research 106(1). p.33-38
Abstract
Atypical lipomatous tumor (ALT) is an intermediate malignant mesenchymal tumor that is characterized by supernumerary ring chromosomes and/or giant rod-shaped marker chromosomes (RGMC). Fluorescence in situ hybridization ( FISH) and molecular genetic analyses have disclosed that the RGMCs always contain amplified sequences from the long arm of chromosome 12. Typically, RGMCs are the sole clonal changes and so far no deletions or other morphologic aberrations of the two normal-appearing chromosomes 12 that invariably are present have been detected. The mechanisms behind the formation of the RGMCs are unknown, but it could be hypothesized that RGMC formation is preceded by trisomy 12 or, alternatively, that ring formation of one chromosome... (More)
Atypical lipomatous tumor (ALT) is an intermediate malignant mesenchymal tumor that is characterized by supernumerary ring chromosomes and/or giant rod-shaped marker chromosomes (RGMC). Fluorescence in situ hybridization ( FISH) and molecular genetic analyses have disclosed that the RGMCs always contain amplified sequences from the long arm of chromosome 12. Typically, RGMCs are the sole clonal changes and so far no deletions or other morphologic aberrations of the two normal-appearing chromosomes 12 that invariably are present have been detected. The mechanisms behind the formation of the RGMCs are unknown, but it could be hypothesized that RGMC formation is preceded by trisomy 12 or, alternatively, that ring formation of one chromosome 12 is followed by duplication of the remaining homolog. The latter scenario would always result in isodisomy for the two normal-appearing chromosomes 12, whereas the former would yield isodisomy in one-third of the cases. In order to investigate these possible mechanisms behind ring formation, we studied polymorphic loci on chromosome 12 in 14 cases of ALT showing one or more supernumerary ring chromosomes and few or no other clonal aberrations at cytogenetic analysis. The molecular genetic analyses showed that the tumor cells always retained both parental copies of chromosome 12, thus refuting the trisomy 12 and duplication hypotheses. Copyright (C) 2004 S. Karger AG, Basel. (Less)
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; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cytogenetic and Genome Research
volume
106
issue
1
pages
33 - 38
publisher
Karger
external identifiers
  • pmid:15218238
  • wos:000224243600081
  • scopus:3042689411
ISSN
1424-859X
DOI
10.1159/000078557
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Division of Clinical Genetics (013022003)
id
3ed7dee0-8f39-4b2a-ba64-1e9bbc438160 (old id 123914)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15218238&dopt=Abstract
date added to LUP
2016-04-01 12:07:00
date last changed
2022-01-26 23:02:58
@article{3ed7dee0-8f39-4b2a-ba64-1e9bbc438160,
  abstract     = {{Atypical lipomatous tumor (ALT) is an intermediate malignant mesenchymal tumor that is characterized by supernumerary ring chromosomes and/or giant rod-shaped marker chromosomes (RGMC). Fluorescence in situ hybridization ( FISH) and molecular genetic analyses have disclosed that the RGMCs always contain amplified sequences from the long arm of chromosome 12. Typically, RGMCs are the sole clonal changes and so far no deletions or other morphologic aberrations of the two normal-appearing chromosomes 12 that invariably are present have been detected. The mechanisms behind the formation of the RGMCs are unknown, but it could be hypothesized that RGMC formation is preceded by trisomy 12 or, alternatively, that ring formation of one chromosome 12 is followed by duplication of the remaining homolog. The latter scenario would always result in isodisomy for the two normal-appearing chromosomes 12, whereas the former would yield isodisomy in one-third of the cases. In order to investigate these possible mechanisms behind ring formation, we studied polymorphic loci on chromosome 12 in 14 cases of ALT showing one or more supernumerary ring chromosomes and few or no other clonal aberrations at cytogenetic analysis. The molecular genetic analyses showed that the tumor cells always retained both parental copies of chromosome 12, thus refuting the trisomy 12 and duplication hypotheses. Copyright (C) 2004 S. Karger AG, Basel.}},
  author       = {{Mertens, Fredrik and Panagopoulos, Ioannis and Jonson, Tord and Gisselsson Nord, David and Isaksson, Margareth and Domanski, Henryk and Mandahl, Nils}},
  issn         = {{1424-859X}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{33--38}},
  publisher    = {{Karger}},
  series       = {{Cytogenetic and Genome Research}},
  title        = {{Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation.}},
  url          = {{http://dx.doi.org/10.1159/000078557}},
  doi          = {{10.1159/000078557}},
  volume       = {{106}},
  year         = {{2004}},
}