Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
Genes Chromosomes and Cancer (Impact Factor: 4.04). 07/2009; 48(7):544-51. DOI: 10.1002/gcc.20663
Source: PubMed


Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All 11 investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC.

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Available from: Simon A Joosse, Apr 21, 2014
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    • "Human Genome 44K and 244K CGH oligonucleotide microarrays (Agilent Technologies, Santa Clara, CA) were used to analyze the copy number alterations of 11 and 32 patients, respectively. Digestion , labeling, hybridization, and data analysis of the isolated DNA were performed according to the manufacturer's instructions, as described previously (Koski et al., 2009). The data were extracted and the quality of the data was checked using Feature Extraction Software (Agilent Technologies ). "
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