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

Hideki Makishima, Manjot Rataul, Lukasz P. Gondek, Jungwon Huh, James R. Cook, Karl S. Theil, Mikkael A. Sekeres, Elizabeth Kuczkowski, Christine O'Keefe, Jaroslaw P. Maciejewski

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)447-453
Number of pages7
JournalLeukemia Research
Volume34
Issue number4
DOIs
StatePublished - Apr 1 2010
Externally publishedYes

Keywords

  • FISH
  • MDS
  • Metaphase cytogenetics
  • SNP arrays

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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  • Cite this

    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. (2010). FISH and SNP-A karyotyping in myelodysplastic syndromes: Improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leukemia Research, 34(4), 447-453. https://doi.org/10.1016/j.leukres.2009.08.023