title: JAK2 V617F mutation status of 232 patients diagnosed with chronic myeloproliferative neoplasms.
abstract: BACKGROUND
  The aim of this study was to investigate the presence of Janus kinase 2 (JAK2) V617F mutation in patients with break point cluster region-abelson negative chronic myeloproliferative neoplasms (CMPNs) in our center.
  
  
  METHODS
  We compared patients with and without the mutation, and also patients with the homozygous and heterozygous mutation, in terms of different clinical and laboratory features.
  
  
  RESULTS
  The JAK2 V617F mutation was detected in 77 (95%), 88 (68%), and 17 (77%) of polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) patients, respectively. Among JAK2 V617F-positive patients, the homozygous genotype was found in 39 (50.6%) of the 77 PV, 23 (26.1%) of the 88 ET, and 11 (64.7%) of the 17 PMF patients. Bleeding was seen in 14 (6%) of all patients. Upper gastrointestinal bleeds were the most common, seen in 11 patients. Out of 232 CMPN patients, 44 (19%) had thrombosis. The most common thrombotic event was transient ischemic attack (52%). Progression to myelofibrosis was seen in 1 (1.2%) PV and 3 (2.3%) ET patients, and progression to acute leukemia was seen in 2 (2.5%) PV and 3 (2.3%) ET patients. Three patients with PV (3.7%), 3 with ET (2.7%), and 5 with PMF (2.7%) died during follow-up.
  
  
  CONCLUSIONS
  JAK2 V617F mutation frequencies in our PV and ET patients were similar to those reported previously. JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports. All of our PV patients with thrombosis and most of our ET patients with thrombosis (76.1%) were JAK2 V617F mutation-positive. This mutation seems to be correlated with thrombosis risk.
authors.affiliation: Division of Hematology, Department of Internal Medicine, Ataturk Training Hospital, Izmir, Turkey. Electronic address: bahriyepayzin@gmail.com.
authors.forename: Kadriye Bahriye
authors.initials: KB
authors.lastname: Payzin
authors.affiliation: Medical Genetics Laboratory, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Kaan
authors.initials: K
authors.lastname: Savasoglu
authors.affiliation: Department of Hematology, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.
authors.forename: Inci
authors.initials: I
authors.lastname: Alacacioglu
authors.affiliation: Division of Hematology, Department of Internal Medicine, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Fusun
authors.initials: F
authors.lastname: Ozdemirkiran
authors.affiliation: Medical Genetics Laboratory, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Belgin Berber
authors.initials: BB
authors.lastname: Mutlu
authors.affiliation: Department of Pathology, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Sadi
authors.initials: S
authors.lastname: Bener
authors.affiliation: Department of Pathology, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Aylin Orgen
authors.initials: AO
authors.lastname: Calli
authors.affiliation: Department of Pathology, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Betul Bolat
authors.initials: BB
authors.lastname: Kucukzeybek
authors.affiliation: Department of Biochemistry, Ataturk Training Hospital, Izmir, Turkey.
authors.forename: Saliha
authors.initials: S
authors.lastname: Aksun
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002908:Chronic Disease; D003062:Codon; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality; D010641:Phenotype; D013927:Thrombosis / Q000209:etiology; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D003062:Codon; D053614:Janus Kinase 2
keywords: Essential thrombocythemia; JAK2 mutation; MPNs; Polycythemia vera; Primary myelofibrosis