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

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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; Lonoce, Angelo; D'Addabbo, Pietro; Rennstam, Karin; Mandahl, Nils; Storlazzi, Clelia Tiziana.

I: Genes, Chromosomes and Cancer, Vol. 48, Nr. 11, 2009, s. 993-1001.

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Trombetta, Domenico ; Mertens, Fredrik ; Lonoce, Angelo ; D'Addabbo, Pietro ; Rennstam, Karin ; Mandahl, Nils ; Storlazzi, Clelia Tiziana. / Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors. I: Genes, Chromosomes and Cancer. 2009 ; Vol. 48, Nr. 11. s. 993-1001.

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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

Y1 - 2009

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 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.

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 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.

U2 - 10.1002/gcc.20700

DO - 10.1002/gcc.20700

M3 - Article

VL - 48

SP - 993

EP - 1001

JO - Genes, Chromosomes and Cancer

JF - Genes, Chromosomes and Cancer

SN - 1045-2257

IS - 11

ER -