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FISH and SNP-A karyotyping in myelodysplastic syndromes: Improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q)

Title
FISH and SNP-A karyotyping in myelodysplastic syndromes: Improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q)
Authors
Makishima H.Rataul M.Gondek L.P.Huh J.Cook J.R.Theil K.S.Sekeres M.A.Kuczkowski E.O'Keefe C.Maciejewski J.P.
Ewha Authors
허정원
SCOPUS Author ID
허정원scopus
Issue Date
2010
Journal Title
Leukemia Research
ISSN
0145-2126JCR Link
Citation
vol. 34, no. 4, pp. 447 - 453
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Cytogenetic aberrations identified by metaphase cytogenetics (MC) have important diagnostic, prognostic and therapeutic roles in myelodysplastic syndromes (MDS). Fluorescence in situ hybridization (FISH) complements MC by the ability to evaluate large numbers of both interphase and metaphase nuclei. However, clinically practical FISH strategies are limited to detection of known lesions. Single nucleotide polymorphism array (SNP-A)-based karyotyping can reveal unbalanced defects with superior resolution over MC and FISH and identify segmental uniparental disomy (UPD) undetectable by either method. Using a standardized approach, we focused our investigation on detection of -5/del(5q), -7/del(7q), trisomy 8 and del(20q) in patients with MDS (N = 52), MDS/myeloproliferative overlap syndromes (N = 7) and acute myeloid leukemia (N = 15) using MC, FISH and SNP-A karyotyping. The detection rate for del(5q) was 30, 32 and 32% by MC, FISH, and SNP-A, respectively. No single method detected all defects, and detection rates improved when all methods were used. The rate for detection of del(5q) increased incrementally to 35% (MC + FISH), 38% (MC + SNP-A), 38% (FISH + SNP-A) and 39% (all three methods). Similar findings were observed for -7/del(7q), trisomy 8 and -20/del(20q). We conclude that MC, FISH and SNP-A are complementary techniques that, when applied and interpreted together, can improve the diagnostic yield for identifying genetic lesions in MDS and contribute to the better description of abnormal karyotypes. © 2009 Elsevier Ltd. All rights reserved.
DOI
10.1016/j.leukres.2009.08.023
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의과대학 > 의학과 > Journal papers
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