Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients.
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 (WT1(AA)) for the SNP rs16754 were significantly younger than those with the heterozygous WT1(AG) 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.
Department of Hematology, Hospital Universitari i Politècnic La Fe, Bulevar Sur s/n, CP 46026, Valencia, Spain. luna_ire@gva.es
Irene
I
Luna
Esperanza
E
Such
Jose
J
Cervera
Eva
E
Barragán
Antonio
A
Jiménez-Velasco
Sandra
S
Dolz
Mariam
M
Ibáñez
Inés
I
Gómez-Seguí
María
M
López-Pavía
Marta
M
Llop
Óscar
Ó
Fuster
Silvestre
S
Oltra
Federico
F
Moscardó
David
D
Martínez-Cuadrón
M Leonor
ML
Senent
Adriana
A
Gascón
Pau
P
Montesinos
Guillermo
G
Martín
Pascual
P
Bolufer
Miguel A
MA
Sanz
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D031541:Fluorescence Resonance Energy Transfer; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009691:Nucleic Acid Denaturation; D009693:Nucleic Acid Hybridization / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D013030:Spain; D016019:Survival Analysis; D025721:WT1 Proteins / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
D025721:WT1 Proteins