Abstract
BackgroundThe aim of the study was to characterize a recurrent amplification at chromosomal region 1p21-22 in bladder cancer.MethodsArrayCGH (aCGH) was performed to identify DNA copy number variations in 7 clinical samples and 6 bladder cancer cell lines. FISH was used to map the amplicon at 1p21-22 in the cell lines. Gene expression microarrays and qRT-PCR were used to study the expression of putative target genes in the region.ResultsaCGH identified an amplification at 1p21-22 in 10/13 (77%) samples. The minimal region of the amplification was mapped to a region of about 1 Mb in size, containing a total of 11 known genes. The highest amplification was found in SCaBER squamous cell carcinoma cell line. Four genes, TMED5, DR1, RPL5 and EVI5, showed significant overexpression in the SCaBER cell line compared to all the other samples tested. Oncomine database analysis revealed upregulation of DR1 in superficial and infiltrating bladder cancer samples, compared to normal bladder.ConclusionsIn conclusions, we have identified and mapped chromosomal amplification at 1p21-22 in bladder cancer as well as studied the expression of the genes in the region. DR1 was found to be significantly overexpressed in the SCaBER, which is a model of squamous cell carcinoma. However, the overexpression was found also in a published clinical sample cohort of superficial and infiltrating bladder cancers. Further studies with more clinical material are needed to investigate the role of the amplification at 1p21-22.
Highlights
The aim of the study was to characterize a recurrent amplification at chromosomal region 1p21-22 in bladder cancer
According to aCGH, the common region of gain comprised of 2 Mb
Fine mapping of the 1p21-22 region The region 1p21-22 was studied in bladder cancer cell lines by fluorescence in situ hybridization (FISH) analysis on interphase nuclei (Figure 1)
Summary
The aim of the study was to characterize a recurrent amplification at chromosomal region 1p21-22 in bladder cancer. Different methods to detect copy number changes, such as classical cytogenetics, interphase fluorescence in situ hybridization (FISH), Southern blot analysis, Several CGH studies providing information about typical losses, gains and amplifications in bladder cancer have been published [4,5,6,7,8]. A few array-CGH (aCGH) genome-wide studies have been performed on both clinical bladder cancers [11,12] as well as cell lines [13]. They have highlighted copy-number alterations in smaller scale, with high accuracy of localization. Some of these genetic changes have been associated with known oncogenes or tumor suppressor genes. Loss of genetic material on chromosome 9 is one of the most frequent alteration in TCC, with 9p and 9q, often both, lost entirely or in part
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