Annals of Hematology

, Volume 91, Issue 12, pp 1845–1853 | Cite as

Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients

  • Irene Luna
  • Esperanza Such
  • Jose Cervera
  • Eva Barragán
  • Antonio Jiménez-Velasco
  • Sandra Dolz
  • Mariam Ibáñez
  • Inés Gómez-Seguí
  • María López-Pavía
  • Marta Llop
  • Óscar Fuster
  • Silvestre Oltra
  • Federico Moscardó
  • David Martínez-Cuadrón
  • M. Leonor Senent
  • Adriana Gascón
  • Pau Montesinos
  • Guillermo Martín
  • Pascual Bolufer
  • Miguel A. Sanz
Original Article

Abstract

The single nucleotide polymorphism (SNP) rs16754 of the WT1 gene has been previously described as a possible prognostic marker in normal karyotype acute myeloid leukemia (AML) patients. Nevertheless, the findings in this field are not always reproducible in different series. One hundred and seventy-five adult de novo AML patients were screened with two different methods for the detection of SNP rs16754: high-resolution melting (HRM) and FRET hybridization probes. Direct sequencing was used to validate both techniques. The SNP was detected in 52 out of 175 patients (30 %), both by HRM and hybridization probes. Direct sequencing confirmed that every positive sample in the screening methods had a variation in the DNA sequence. Patients with the wild-type genotype (WT1AA) for the SNP rs16754 were significantly younger than those with the heterozygous WT1AG genotype. No other difference was observed for baseline characteristic or outcome between patients with or without the SNP. Both techniques are equally reliable and reproducible as screening methods for the detection of the SNP rs16754, allowing for the selection of those samples that will need to be sequenced. We were unable to confirm the suggested favorable outcome of SNP rs16754 in de novo AML.

Keywords

Acute myeloid leukemia SNP rs16754 of WT1 gene 

Supplementary material

277_2012_1596_MOESM1_ESM.doc (883 kb)
ESM 1(DOC 883 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Irene Luna
    • 1
    • 6
  • Esperanza Such
    • 1
  • Jose Cervera
    • 1
  • Eva Barragán
    • 2
  • Antonio Jiménez-Velasco
    • 3
  • Sandra Dolz
    • 2
  • Mariam Ibáñez
    • 1
  • Inés Gómez-Seguí
    • 1
  • María López-Pavía
    • 1
  • Marta Llop
    • 2
  • Óscar Fuster
    • 2
  • Silvestre Oltra
    • 4
  • Federico Moscardó
    • 1
  • David Martínez-Cuadrón
    • 1
  • M. Leonor Senent
    • 1
  • Adriana Gascón
    • 1
  • Pau Montesinos
    • 1
  • Guillermo Martín
    • 1
  • Pascual Bolufer
    • 2
  • Miguel A. Sanz
    • 1
    • 5
  1. 1.Department of HematologyHospital Universitari i Politècnic La FeValenciaSpain
  2. 2.Laboratory of Molecular Biology, Department of Medical PathologyHospital Universitario La FeValenciaSpain
  3. 3.Department of HematologyHospital Universitario Carlos HayaMálagaSpain
  4. 4.Genetic UnitHospital Universitario La FeValenciaSpain
  5. 5.Facultad de MedicinaUniversidad de ValenciaValenciaSpain
  6. 6.Department of HematologyHospital Universitari La FeValenciaSpain

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