Journal
BLOOD
Volume 111, Issue 3, Pages 1534-1542Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2007-05-092304
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Funding
- NCRR NIH HHS [S10 RR019391, U54 RR019391] Funding Source: Medline
- NHLBI NIH HHS [R01 HL082983, K24 HL077522] Funding Source: Medline
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Using metaphase cytogenetics (MC), chromosomal abnormalities are found in only a proportion of patients with myelo-dysplastic syndrome (MDS). We hypothesized that with new precise methods more cryptic karyotypic lesions can be uncovered that may show important clinical implications. We have applied 250K single nucleotide polymorphisms (SNP) arrays (SNP-A) to study chromosomal lesions in samples from 174 patients (94 MDS, 33 secondary acute myeloid leukemia [sAML], and 47 myelodysplastic/ myeloproliferative disease [MDS/MPD]) and 76 controls, Using SNP-A, aberrations were found in around three-fourths of MDS, MDS/MPD, and sAML (vs 59%, 37%, 53% by MC; in 8% of patients MC was unsuccessful). Previously unrecognized lesions were detected in patients with normal MC and in those with known lesions. Moreover, segmental uniparental disomy (UPD) was found in 20% of MDS, 23% of sAML, and 35% of MDS/MPD patients, a lesion resulting in copy-neutral loss of heterozygosity undetectable by MC. The potential clinical significance of abnormalities detected by SNP-A, but not seen on MC, was demonstrated by their impact on overall survival. UPD involving chromosomes frequently affected by deletions may have prognostic implications similar to the deletions visible by MC. SNP-A-based karyotyping shows superior resolution for chromosomal defects, including UPD. This technique further complements MC to improve clinical prognosis and targeted therapies.
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