title: [JAK2 V617F mutation burden and its clinical implications in 415 patients with myeloproliferative neoplasm].
abstract: OBJECTIVE
  To detect JAK2 V617F mutation burden and its clinical implications in patients with myeloproliferative neoplasm (MPN).
  
  
  METHODS
  JAK2 V617F mutation burden were detected by using MGB Taqman probes and its clinical significance were retrospectively studied in 415 MPN patients.
  
  
  RESULTS
  JAK2 V617F was found in 56.9% of all patients [83.5% in polycythemia vera (PV), 55.9% in essential thrombocythemia (ET), 41.9% in primary myelofibrosis (PMF) and 64.7% in MPN-unclassifiable)]. The majority of patients carried heterozygous JAK2 V617F mutation and homozygote was found only in 12 cases (4 in PV, 4 in MPN-U, 2 in PMF, 1 in ET, and 1 in chronic neutrophilic leukemia). Most patients (68.8%) were lower mutation burden (mutation burden<50%), but PV had the highest burden, the moderate burden in PMF and the least in ET. The patient's age and WBC count were significantly correlated with higher mutation burden in PV. WBC count was significantly related to higher mutation burden in ET. WBC count, Hb level and the platelet count were significantly related to higher mutation burden in PMF.
  
  
  CONCLUSIONS
  The mutation burden of JAK2 V617F from high to low was PV, ET and PMF. The majority of JAK2 V617F mutation was heterozygous. JAK2 V617F mutation burden was positively correlated with age, WBC, Hb and platelet counts.
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Yuquan
authors: Y
authors: Liu
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Chuanfang
authors: C
authors: Liu
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Na
authors: N
authors: He
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Min
authors: M
authors: Wang
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Xinxiu
authors: X
authors: Zhang
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Dongyi
authors: D
authors: Tang
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Chunyan
authors: C
authors: Ji
authors: Department of Hematology, Qilu Hospital, Shandong University, Ji'nan 250012, China.
authors: Daoxin
authors: D
authors: Ma
mesh_terms: D006720:Homozygote; D006801:Humans; D053614:Janus Kinase 2; D007958:Leukocyte Count; D009154:Mutation; D009196:Myeloproliferative Disorders; D010976:Platelet Count; D011087:Polycythemia Vera; D012189:Retrospective Studies; D013920:Thrombocythemia, Essential
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2