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Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors

Trombetta, Domenico; Mertens, Fredrik LU ; Lonoce, Angelo; D'Addabbo, Pietro; Rennstam, Karin LU ; Mandahl, Nils LU and Storlazzi, Clelia Tiziana (2009) In Genes, Chromosomes and Cancer 48(11). p.993-1001
Abstract
Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT). In ALT, the ring chromosomes invariably contain amplified material from the central part of the long arm of chromosome 12, mainly 12q 12 -> 15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q 13.3-14.1 and harboring the candidate target genes TSPAN31 and CDK4, often has a sharp centromeric border. To characterize this breakpoint region in more detail, 12 cases of ALT with ring chromosomes were analyzed by array comparative genomic hybridization and fluorescence in situ hybridization.... (More)
Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT). In ALT, the ring chromosomes invariably contain amplified material from the central part of the long arm of chromosome 12, mainly 12q 12 -> 15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q 13.3-14.1 and harboring the candidate target genes TSPAN31 and CDK4, often has a sharp centromeric border. To characterize this breakpoint region in more detail, 12 cases of ALT with ring chromosomes were analyzed by array comparative genomic hybridization and fluorescence in situ hybridization. In the seven cases showing a sharply delineated amplicon in 12q 13.3-14.1, the breakpoint region was further investigated by real time quantitative polymerase chain reaction and Vectorette PCR. The breakpoints clustered to a 146-kb region containing 11 genes. Whereas there was no indication that the breakpoints gave rise to fusion genes, in silico analysis revealed that the breakpoint region was enriched for repeated elements that could be important for ring chromosome formation in ALT. (C) 2009 Wiley-Liss, Inc. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Genes, Chromosomes and Cancer
volume
48
issue
11
pages
993 - 1001
publisher
John Wiley & Sons
external identifiers
  • wos:000270191000006
  • scopus:70349318335
ISSN
1045-2257
DOI
10.1002/gcc.20700
language
English
LU publication?
yes
id
d7ef99fa-da29-401d-97d3-380d58f4de8a (old id 1490056)
date added to LUP
2009-10-20 11:32:57
date last changed
2017-11-19 03:36:38
@article{d7ef99fa-da29-401d-97d3-380d58f4de8a,
  abstract     = {Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT). In ALT, the ring chromosomes invariably contain amplified material from the central part of the long arm of chromosome 12, mainly 12q 12 -> 15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q 13.3-14.1 and harboring the candidate target genes TSPAN31 and CDK4, often has a sharp centromeric border. To characterize this breakpoint region in more detail, 12 cases of ALT with ring chromosomes were analyzed by array comparative genomic hybridization and fluorescence in situ hybridization. In the seven cases showing a sharply delineated amplicon in 12q 13.3-14.1, the breakpoint region was further investigated by real time quantitative polymerase chain reaction and Vectorette PCR. The breakpoints clustered to a 146-kb region containing 11 genes. Whereas there was no indication that the breakpoints gave rise to fusion genes, in silico analysis revealed that the breakpoint region was enriched for repeated elements that could be important for ring chromosome formation in ALT. (C) 2009 Wiley-Liss, Inc.},
  author       = {Trombetta, Domenico and Mertens, Fredrik and Lonoce, Angelo and D'Addabbo, Pietro and Rennstam, Karin and Mandahl, Nils and Storlazzi, Clelia Tiziana},
  issn         = {1045-2257},
  language     = {eng},
  number       = {11},
  pages        = {993--1001},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors},
  url          = {http://dx.doi.org/10.1002/gcc.20700},
  volume       = {48},
  year         = {2009},
}