Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors

Domenico Trombetta, Fredrik Mertens, Angelo Lonoce, Pietro D'Addabbo, Karin Rennstam, Nils Mandahl, Clelia Tiziana Storlazzi

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 languageEnglish
Pages (from-to)993-1001
Number of pages9
JournalGenes Chromosomes and Cancer
Volume48
Issue number11
DOIs
Publication statusPublished - Nov 2009

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Ring Chromosomes
Chromosomes, Human, Pair 12
Neoplasms
Comparative Genomic Hybridization
Gene Fusion
Fluorescence In Situ Hybridization
Cytogenetics
Computer Simulation
Genes
In Situ Hybridization
Real-Time Polymerase Chain Reaction
Chromosomes
Bone and Bones
Polymerase Chain Reaction

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 journalArticle

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. In: Genes Chromosomes and Cancer. 2009 ; Vol. 48, No. 11. pp. 993-1001.
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