title: Relationship between JAK2V617F mutation, allele burden and coagulation function in Ph-negative myeloproliferative neoplasms.
abstract: OBJECTIVE
  Our aim was to explore the relationship between JAK2V617F mutation allele burden and hematological parameters especially in coagulation function in Chinese population.
  
  
  METHODS
  This study included 133 Ph-negative myeloproliferative neoplasms (MPNs) patients between 2013 and 2016. All the clinical and experimental data of patients were collected at the time of the diagnosis without any prior treatment, including blood parameters, coagulation function, splenomegaly, vascular events and chromosome karyotype. PCR and qPCR were used to detect JAK2V617F mutation and JAK2V617F mutation allele burden.
  
  
  RESULTS
  In polycythemia vera patients, a positive correlation between the allele burden of JAK2V617F mutation and PLT counts was found; in essential thrombocythemia (ET) patients, WBC counts, RBC counts, HB, and HCT were higher in mutated patients than in wild-type patients. Furthermore, PT-INR was higher in ET and PMF mutated patients. In addition, a positive correlation between the allele burden of JAK2V617F mutation and activated partial thromboplastin time (APTT) was observed in JAK2V617F mutated ET patients.
  
  
  CONCLUSIONS
  Higher hematologic parameters including counts of WBC, RBC, and PLT are closely associated with JAK2V617F mutation and its burden in Ph-negative MPNs; importantly, PT-INR, APTT are also related to JAK2V617F mutation and allele burden. Thus, our data indicate that JAK2V617F mutation allele burden might not only represent the burden of MPN but also alter the coagulation function.
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Linhui
authors.initials: L
authors.lastname: Hu
authors.affiliation: b The Third People's Hospital of Bengbu , Bengbu , Anhui Province , People's Republic of China.
authors.forename: Lianfang
authors.initials: L
authors.lastname: Pu
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Yangyang
authors.initials: Y
authors.lastname: Ding
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Manman
authors.initials: M
authors.lastname: Li
authors.affiliation: c UHN (University Health Network), University of Toronto , Toronto , ON , Canada.
authors.forename: Michael
authors.initials: M
authors.lastname: Cabanero
authors.affiliation: d Department of Physiology and Pathophysiology , School of Basic Medical Sciences, Fudan University , Shanghai , People's Republic of China.
authors.forename: Jingxin
authors.initials: J
authors.lastname: Xie
authors.affiliation: e Department of Hematology , Huaibei Miners General Hospital , Huaibei , Anhui Province , People's Republic of China.
authors.forename: Dejun
authors.initials: D
authors.lastname: Zhou
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Dongdong
authors.initials: D
authors.lastname: Yang
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Cui
authors.initials: C
authors.lastname: Zhang
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Huiping
authors.initials: H
authors.lastname: Wang
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Zhai
authors.affiliation: f School of Nursing, Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Ru
authors.affiliation: g Department of Emergency , The Second Hospital of Anhui Medical university , Hefei , Anhui Province , People's Republic of China.
authors.forename: Jingrong
authors.initials: J
authors.lastname: Li
authors.affiliation: a Department of Hematology/Hematological Lab , The Second Hospital of Anhui Medical University , Hefei , Anhui Province , People's Republic of China.
authors.forename: Shudao
authors.initials: S
authors.lastname: Xiong
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D001777:Blood Coagulation; D001780:Blood Coagulation Tests; D003062:Codon; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D010677:Philadelphia Chromosome
chemical_list: D003062:Codon; D053614:Janus Kinase 2
keywords: JAK2V617F mutation; Ph-negative MPN; allele burden; coagulation function