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Single nucleotide polymorphism array-based karyotyping shows sequential genomic changes from monosomy to copy-neutral loss of heterozygosity of chromosome 7 and 20q deletion within a balanced translocation t(14;20) in AML

Title
Single nucleotide polymorphism array-based karyotyping shows sequential genomic changes from monosomy to copy-neutral loss of heterozygosity of chromosome 7 and 20q deletion within a balanced translocation t(14;20) in AML
Authors
Huh J.Mun Y.C.Seong C.M.Chung W.S.
Ewha Authors
정화순성주명허정원문영철
SCOPUS Author ID
정화순scopus; 성주명scopus; 허정원scopus; 문영철scopus
Issue Date
2011
Journal Title
Cancer Genetics
ISSN
2210-7762JCR Link
Citation
vol. 204, no. 12, pp. 682 - 686
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Single nucleotide polymorphism array (SNP-A)-based karyotyping can identify copy-neutral loss of heterozygosity (CN-LOH) as well as cryptic lesions not detected by metaphase cytogenetics. We report serial genetic studies on a patient diagnosed with chronic myelomonocytic leukemia who progressed to acute leukemia. Monosomy 7 was predominantly found at diagnosis, but clones changed to CN-LOH of chromosome 7 with disease progression. Furthermore, subclones with genomic aberrations of 3q gain, 1. p CN-LOH, and trisomy 12 newly appeared, suggesting that they were also involved in the transformation process. Additionally, by SNP-A, a presumably balanced translocation, t(14;20), identified by metaphase cytogenetics, was shown to result in an unbalanced 20q deletion at the breakpoint. The sequential changes identified by SNP-A may provide a better understanding of the mechanism of clonal evolution. © 2011 Elsevier Inc.
DOI
10.1016/j.cancergen.2011.11.003
Appears in Collections:
의과대학 > 의학과 > Journal papers
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