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Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies

Title
Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies
Authors
Tiu R.V.Gondek L.P.O'Keefe C.L.Elson P.Huh J.Mohamedali A.Kulasekararaj A.Advani A.S.Paquette R.List A.F.Sekeres M.A.McDevitt M.A.Mufti G.J.Maciejewski J.P.
Ewha Authors
허정원
SCOPUS Author ID
허정원scopus
Issue Date
2011
Journal Title
Blood
ISSN
0006-4971JCR Link
Citation
vol. 117, no. 17, pp. 4552 - 4560
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Single nucleotide polymorphism arrays (SNP-As) have emerged as an important tool in the identification of chromosomal defects undetected by metaphase cytogenetics (MC) in hematologic cancers, offering superior resolution of unbalanced chromosomal defects and acquired copyneutral loss of heterozygosity. Myelodysplastic syndromes (MDSs) and related cancers share recurrent chromosomal defects and molecular lesions that predict outcomes. We hypothesized that combining SNP-A and MC could improve diagnosis/prognosis and further the molecular characterization of myeloid malignancies. We analyzed MC/SNP-A results from 430 patients (MDS = 250, MDS/myeloproliferative overlap neoplasm = 95, acute myeloid leukemia from MDS = 85). The frequency and clinical significance of genomic aberrations was compared between MC and MC plus SNP-A. Combined MC/SNP-A karyotyping lead to higher diagnostic yield of chromosomal defects (74% vs 44%, P < .0001), compared with MCalone, often through detection of novel lesions in patients with normal/noninformative (54%) and abnormal (62%) MC results. Newly detected SNP-A defects contributed to poorer prognosis for patients stratified by current morphologic and clinical risk schemes. The presence and number of new SNP-A detected lesions are independent predictors of overall and event-free survival. The significant diagnostic and prognostic contributions of SNP-A-detected defects in MDS and related diseases underscore the utility of SNP-A when combined with MC in hematologic malignancies. © 2011 by The American Society of Hematology.
DOI
10.1182/blood-2010-07-295857
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의과대학 > 의학과 > Journal papers
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