title: ASXL1 and JAK2V617F gene mutation screening in Iranian patients with chronic myeloid leukemia.
abstract: OBJECTIVE
  In recent years, a few cases of chronic myeloid leukemia (CML) have been reported with both BCR-ABL and JAK2V617F mutations. Moreover, mutations in the additional sex comb-like 1 (ASXL1) gene were recently shown in various myeloid malignancies.There were no previous studies investigating the incidence of the ASXL1 and JAK2V617F mutations in Iranian patients with CML. Consequently, this study focuses on the analysis of these mutations in patients with CML.
  
  
  METHODS
  In total, 66 patients with a clinical diagnosis of CML were examined at the time of diagnosis. Thirty healthy subjects were checked as controls. Exon 12 of ASXL1 was amplified from genomic DNA and bidirectionally sequenced. We also performed JAK2V617F screening by amplification refractory mutation system-polymerase chain reaction and sequencing.
  
  
  RESULTS
  Mutations in the ASXL1 gene were found in five out of 66 CML patients (7.6%). We identified a novel variant (c.1968G > A, p.Asp656Asn) in one of the patients that has not been reported before. We also identified BCR-ABL and JAK2V617F mutations simultaneously in four patients (6%).
  
  
  CONCLUSIONS
  Our demonstration of ASXL1 mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML. We also showed that concomitant detection of BCR-ABL and JAK2V617F mutations has a relatively high incidence in Iranian patients.
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: Amir
authors.initials: A
authors.lastname: Valikhani
authors.affiliation: Tehran Medical Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Behzad
authors.initials: B
authors.lastname: Poopak
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: Shirin
authors.initials: S
authors.lastname: Ferdowsi
authors.affiliation: Department of School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ghasem
authors.initials: G
authors.lastname: Azizi Tabesh
authors.affiliation: Hematology-Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Seyed H
authors.initials: SH
authors.lastname: Ghaffari
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: Ehsan
authors.initials: E
authors.lastname: Saraf Kazeruoni
authors.affiliation: Department of Epidemiology, School of Public Health, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Negar
authors.initials: N
authors.lastname: Rezaei
authors.affiliation: Department of Microbiology, Urmia University, Urmia, Tehran, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Farshchi
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
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007492:Iran; D053614:Janus Kinase 2 / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C473949:ASXL1 protein, human; D012097:Repressor Proteins; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: ASXL1; JAK2V617F; chronic myeloid leukemia