title: JAK2, MPL, and CALR mutations in Chinese Han patients with essential thrombocythemia.
abstract: BACKGROUND
  Mutations in Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL), and CALR are highly relevant to Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms.
  
  
  METHODS
  Assessing the prevalence of molecular mutations in Chinese Han patients with essential thrombocythemia (ET), and correlating their mutational profile with disease characteristics/phenotype.
  
  
  RESULTS
  Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET). Mutations in JAK2 exon 12 were not detected in any patient. Two ET patients had both CALR and JAK2 V617F mutations. Comparing the hematological parameters of the patients with JAK2 mutations with those of the patients with CALR mutations showed that the ET patients with CALR mutations were younger (p = 0.045) and had higher platelet counts (p = 0.043).
  
  
  CONCLUSIONS
  Genotyping for CALR could be a useful diagnostic tool for JAK2/MPL-negative ET, since the data suggest that CALR is much more prevalent than MPL, therefore testing for CALR should be considered in patients who are JAK2 negative as its frequency is almost 20 times that of MPL mutation.
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: b Department of Pathology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Biao
authors.initials: B
authors.lastname: Zhang
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Bing
authors.initials: B
authors.lastname: Chen
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Rong-Fu
authors.initials: RF
authors.lastname: Zhou
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Qi-Guo
authors.initials: QG
authors.lastname: Zhang
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Juan
authors.initials: J
authors.lastname: Li
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Yong-Gong
authors.initials: YG
authors.lastname: Yang
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Min
authors.initials: M
authors.lastname: Zhou
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Shao
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Xu
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Xi-Hui
authors.initials: XH
authors.lastname: Xu
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Jian
authors.initials: J
authors.lastname: Ouyang
authors.affiliation: a Department of Hematology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Jingyan
authors.initials: J
authors.lastname: Xu
authors.affiliation: b Department of Pathology , The Affiliated DrumTower Hospital of Nanjing University Medical School , Nanjing , Jiangsu , PR China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Ye
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D037282:Calreticulin / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D012189:Retrospective Studies; D013920:Thrombocythemia, Essential / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D055815:Young Adult
chemical_list: D037282:Calreticulin; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D053614:Janus Kinase 2
keywords: Janus kinase 2; Myeloproliferative neoplasms; calreticulin; essential thrombocythemia