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• W1980347052 abstract "Molecular cytogenetic alterations, specifically monosomy 3, are strongly correlated with metastases and death in uveal melanoma (UVM). Although FISH can be used for the identification of monosomy 3, a subset of UVM exhibit only partial loss of chromosome 3 potentially missed with chromosome enumeration probes. Moreover, often limited material available can compromise detection of additional alterations with potential clinical relevance. Microarray analysis is an alternative method for the analysis of such specimens affording whole genome interrogation. In the current study we performed microarray to detect genomic changes in DNA from FFPET and FZT UVM samples (clinical trial NCT00952939). Of the available cases, 23.5% yielded DNA of sufficient quantity and quality to obtain interpretable microarray results, representing 28 patients. All but one case demonstrated significant abnormalities. Gains of 8q, consistent with an apparent i(8)(q10) karyotype, were the most common finding, seen in 21 patients. Monosomy 3 was detected by microarray in 15 cases. A single case showed partial loss of 3 (3q11.2q25.31), the only clinically significant abnormality detected in that case. All cases lacking chromosome 3 abnormalities showed a copy gain of 6p sharing a small 28.18 Mb region of overlap at 6p25.2p21.33. Additional findings included TERT and NEDD9 amplifications, and CDKN2A/B and LUM gene deletions. SNP analysis revealed three cases with unique regions of copy neutral LOH involving 5p15.33q35.3, 15q11.2q21.1 and one case with whole chromosome LOH for chromosomes 3, 4 and 6. The latter was detected in a FZT specimen, while the paired FFPET sample lacked evidence of LOH and showed monosomy 3, trisomy 4 and whole arm gains and losses of 6p and 6q, respectively, suggesting the presence of tumor heterogeneity. Microarray analysis has identified new recurrent abnormalities associated with UVM with potential relevance to UVM biology, diagnosis and prognosis. Conflict of Interest: Roger Schultz is an employee of Perkin Elmer." @default.
• W1980347052 created "2016-06-24" @default.
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• W1980347052 date "2013-05-01" @default.
• W1980347052 modified "2023-09-26" @default.
• W1980347052 title "Microarray Analysis of Formalin-Fixed Paraffin-Embedded (FFPET) and Frozen (FZT) Uveal Melanoma Detects Clinically Relevant Abnormalities, Including Chromosome 3 Loss of Heterozygosity" @default.
• W1980347052 doi "https://doi.org/10.1016/j.cancergen.2013.05.011" @default.
• W1980347052 hasPublicationYear "2013" @default.
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