title: Prevalence and Prognostic Impact of Wilms' Tumor 1 (WT1) Gene, Including SNP rs16754 in Cytogenetically Normal Acute Myeloblastic Leukemia (CN-AML): An Iranian Experience.
abstract: BACKGROUND
  The aim of this study was to evaluate the effect of Wilms' tumor 1 (WT1) gene mutations in adult cytogenetically normal acute myeloblastic leukemia (CN-AML) patients on survival and clinical outcome.
  
  
  METHODS
  A total of 88 untreated Iranian adult patients with CN-AML were selected as a study group. Exons 7 (including the SNP rs16754), 8, and 9 as a WT1 gene hotspot region were evaluated by polymerase chain reaction and direct sequencing for detection of mutations. Response to treatment and clinical outcome including overall survival (OS) and disease-free survival (DFS) were evaluated according to WT1 gene mutational status.
  
  
  RESULTS
  WT1 gene mutations were found in 12.5% of patients, most of which were found in exon 7. Complete remission was lower and relapse was higher in patients with WT1 gene mutation compared with WT1 gene wild type patients. OS and DFS was significantly lower in patients with WT1 gene mutation compared with patients with WT1 gene wild type (P < .001). Also, we did not find any significant effects of SNP rs16754 in exon 7 on clinical outcome and survival in patients with CN-AML.
  
  
  CONCLUSIONS
  WT1 gene mutations are a predictor indicator of a poor prognosis factor in CN-AML patients. It is recommended that WT1 gene mutations be included in the molecular testing panel in order to better diagnose and confirm their prognostic significance for better management and treatment strategy.
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran; Thrombosis Hemostasis Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Toogeh
authors.affiliation: Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Mani
authors.initials: M
authors.lastname: Ramzi
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Faranoush
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: Naser
authors.initials: N
authors.lastname: Amirizadeh
authors.affiliation: Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Sezaneh
authors.initials: S
authors.lastname: Haghpanah
authors.affiliation: Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Moghadam
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran. Electronic address: cohannader@yahoo.com.
authors.forename: Nader
authors.initials: N
authors.lastname: Cohan
mesh_terms: D000328:Adult; D000483:Alleles; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor; D005260:Female; D005838:Genotype; D006801:Humans; D007492:Iran / Q000453:epidemiology; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011379:Prognosis; D016896:Treatment Outcome; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D025721:WT1 Proteins
keywords: Acute myeloblastic leukemia; Clinical outcome; Prognosis; Survival; Wilms' tumor gene