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 12q12!15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q13.3-14.1 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 12q13.3-14.1, 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.
| Original language | English |
|---|---|
| Pages (from-to) | 993-1001 |
| Number of pages | 9 |
| Journal | Genes Chromosomes and Cancer |
| Volume | 48 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2009 |
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ASJC Scopus subject areas
- Cancer Research
- Genetics
Cite this
Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors. / Trombetta, Domenico; Mertens, Fredrik; Lonoce, Angelo; D'Addabbo, Pietro; Rennstam, Karin; Mandahl, Nils; Storlazzi, Clelia Tiziana.
In: Genes Chromosomes and Cancer, Vol. 48, No. 11, 11.2009, p. 993-1001.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors
AU - Trombetta, Domenico
AU - Mertens, Fredrik
AU - Lonoce, Angelo
AU - D'Addabbo, Pietro
AU - Rennstam, Karin
AU - Mandahl, Nils
AU - Storlazzi, Clelia Tiziana
PY - 2009/11
Y1 - 2009/11
N2 - 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 12q12!15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q13.3-14.1 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 12q13.3-14.1, 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.
AB - 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 12q12!15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q13.3-14.1 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 12q13.3-14.1, 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.
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U2 - 10.1002/gcc.20700
DO - 10.1002/gcc.20700
M3 - Article
C2 - 19691106
AN - SCOPUS:70349318335
VL - 48
SP - 993
EP - 1001
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
SN - 1045-2257
IS - 11
ER -