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.
Original language | English |
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Pages (from-to) | 682-686 |
Number of pages | 5 |
Journal | Cancer Genetics |
Volume | 204 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2011 |
Keywords
- Chromosome 7
- Clonal evolution
- Copy-neutral LOH
- Monosomy