Document Detail


Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors.
MedLine Citation:
PMID:  19691106     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Domenico Trombetta; Fredrik Mertens; Angelo Lonoce; Pietro D'Addabbo; Karin Rennstam; Nils Mandahl; Clelia Tiziana Storlazzi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  48     ISSN:  1098-2264     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  2009 Nov 
Date Detail:
Created Date:  2009-09-21     Completed Date:  2010-01-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  993-1001     Citation Subset:  IM    
Copyright Information:
Copyright 2009 Wiley-Liss, Inc.
Affiliation:
Department of Genetics and Microbiology, University of Bari, Bari, Italy. d.trombetta@biologia.uniba.it
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Breakpoints*
Chromosome Mapping
Chromosomes, Human, Pair 12*
Comparative Genomic Hybridization
Computational Biology
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Lipoma / genetics*
Molecular Sequence Data
Oligonucleotide Array Sequence Analysis
Reproducibility of Results
Ring Chromosomes*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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