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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
- 정화순; 성주명; 허정원; 문영철
- SCOPUS Author ID
- 정화순; 성주명; 허정원; 문영철
- Issue Date
- 2011
- Journal Title
- Cancer Genetics
- ISSN
- 2210-7762
- Citation
- Cancer Genetics vol. 204, no. 12, pp. 682 - 686
- Indexed
- SCI; SCIE; SCOPUS
- Document Type
- Article
- 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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