title: Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients.
abstract: BACKGROUND
  Classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis frequently harbor JAK2, MPL, and CALR somatic mutations.
  
  
  METHODS
  AS-PCR for JAK2 V617F, pyrosequencing for MPL W515L/K, and PCR-fragment analysis for CALR exon 9 mutations were established to analyze genomic DNA isolated from peripheral blood samples of 58 newly diagnosed ET patients in Thailand.
  
  
  RESULTS
  JAK2 V617F was detected in 41 patients (71%) and CALR exon 9 mutation was positive in eight patients (14%), whereas no mutation of MPL W515L/K was observed in this study. Patients with CALR mutation were older (p = 0.023) and exhibited lower number of platelet count (p = 0.041) than patients without CALR mutation. Two previously known CALR mutation types were identified in this study (six patients with CALR-type 1 and two patients with CALR-type 2). Additionally, no co-existence of JAK2 V617F and CALR mutations was identified in this work.
  
  
  CONCLUSIONS
  We reported the frequency of JAK2 V617F, MPL W515L/K, and CALR mutations in Thai patients with ET. Clinical and hematological phenotypes of patients were associated with JAK2 and CALR mutation statuses. The combination of laboratory testing for the detection of JAK2, CALR, and MPL mutations is necessary to improve the diagnosis and classification of BCR-ABL1-negative MPN.
authors.affiliation: a Human Genetics Laboratory, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital , Mahidol University , Bangkok , Thailand.
authors.forename: N
authors.initials: N
authors.lastname: Limsuwanachot
authors.affiliation: a Human Genetics Laboratory, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital , Mahidol University , Bangkok , Thailand.
authors.forename: B
authors.initials: B
authors.lastname: Rerkamnuaychoke
authors.affiliation: b Division of Hematology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital , Mahidol University , Bangkok , Thailand.
authors.forename: S
authors.initials: S
authors.lastname: Chuncharunee
authors.affiliation: b Division of Hematology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital , Mahidol University , Bangkok , Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Pauwilai
authors.affiliation: c Faculty of Medical Technology , Nakhonratchasima College , Nakhonratchasima , Thailand.
authors.forename: R
authors.initials: R
authors.lastname: Singdong
authors.affiliation: d Division of Hematology, Clinical Pathology Laboratory , HRH Princess Maha Chakri Sirindhorn Medical Center , Nakhon Nayok , Thailand.
authors.forename: P
authors.initials: P
authors.lastname: Rujirachaivej
authors.affiliation: a Human Genetics Laboratory, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital , Mahidol University , Bangkok , Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Chareonsirisuthigul
authors.affiliation: a Human Genetics Laboratory, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital , Mahidol University , Bangkok , Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Siriboonpiputtana
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013920:Thrombocythemia, Essential / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: BCR-ABL1-negative MPN; JAK2 V617F; calreticulin; essential thrombocythemia; frameshift mutation