Chromosomal Aberrations in Bladder Cancer: Fresh versus Formalin Fixed Paraffin Embedded Tissue and Targeted FISH versus Wide Microarray-Based CGH Analysis

PLoS One

Paolo Viganò¹  Maria Grazia Valsecchi¹  Laura Antolini²  Giorgio Bovo²  Elena Panzeri²  Leda Dalprà³  Guido Strada⁴  Serena Redaelli⁵  Francesco Pallotti⁵  Donatella Conconi⁵  Angela Bentivegna⁶ 

[1] Department of Clinical Medicine and Prevention, Center of Biostatistics for Clinical Epidemiology, University of Milan-Bicocca, Monza, Italy;Department of Neuroscience and Biomedical Technologies, University of Milan-Bicocca, Monza, Italy;Department of Pathology, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Italy;Department of Pathology, S. Gerardo Hospital, Monza, Italy;Medical Genetics Laboratory, S. Gerardo Hospital, Monza, Italy;Urology Division, Bassini ICP Hospital, Milano, Italy

关键词: Bladder cancer;    Gene ontologies;    Fluorescent in situ hybridization;    Biopsy;    Cancer detection and diagnosis;    Genetic loci;    Invasive tumors;    Histology;   

DOI  :  10.1371/journal.pone.0024237

学科分类：医学（综合）

来源: Public Library of Science

【 摘 要 】

Bladder carcinogenesis is believed to follow two alternative pathways driven by the loss of chromosome 9 and the gain of chromosome 7, albeit other nonrandom copy number alterations (CNAs) were identified. However, confirmation studies are needed since many aspects of this model remain unclear and considerable heterogeneity among cases has emerged. One of the purposes of this study was to evaluate the performance of a targeted test (UroVysion assay) widely used for the detection of Transitional Cell Carcinoma (TCC) of the bladder, in two different types of material derived from the same tumor. We compared the results of UroVysion test performed on Freshly Isolated interphasic Nuclei (FIN) and on Formalin Fixed Paraffin Embedded (FFPE) tissues from 22 TCCs and we didn't find substantial differences. A second goal was to assess the concordance between array-CGH profiles and the targeted chromosomal profiles of UroVysion assay on an additional set of 10 TCCs, in order to evaluate whether UroVysion is an adequately sensitive method for the identification of selected aneuploidies and nonrandom CNAs in TCCs. Our results confirmed the importance of global genomic screening methods, that is array based CGH, to comprehensively determine the genomic profiles of large series of TCCs tumors. However, this technique has yet some limitations, such as not being able to detect low level mosaicism, or not detecting any change in the number of copies for a kind of compensatory effect due to the presence of high cellular heterogeneity. Thus, it is still advisable to use complementary techniques such as array-CGH and FISH, as the former is able to detect alterations at the genome level not excluding any chromosome, but the latter is able to maintain the individual data at the level of single cells, even if it focuses on few genomic regions.

【 授权许可】

CC BY