Short communication Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization

2008 
Chromosomal analysis and fluorescence in situ hybridization (FISH) have been routinely used in de- tecting recurrent chromosomal abnormalities in patients with various hematological malignancies. However, the genomic imbalances underlying many recurrent abnormalities could not be delineated duetothelowresolution ofchromosomeanalysis. Wehaveperformedoligonucleotide-arraycompar- ativegenomic hybridization(oaCGH)inan AMLcasewitha15p/17p translocation,asuspected 9p21 deletion, monosomies of chromosomes X and 9, and 2 to 60 double minutes. The oaCGH findings confirmed the chromosomal observations and further characterized a 21.338-Mb 17p deletion, a 3.916-Mb deletion at 9p21.3 containing the MTAP, CDKN2A, CDKN2B, and ELAVL2 genes, and a 3.981-Mb 8q24 double minute containing the TRIB1, FAM84B, MYC, and PVT1 genes, with an av- erage of 30 double minutes in each cell. FISH using MYC probes and bacterial artificial chromosome clone probes confirmed the genomic findings and revealed a progressional pattern for the 9p21.3 de- letion. These results demonstrate the potential of oaCGH as a powerful diagnostic tool for character- izing genomic imbalances for patients with hematological malignancies. 2008 Elsevier Inc. All rights reserved.
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