title: Relevance of JAK2V617F positivity to hematological diseases--survey of samples from a clinical genetics laboratory.
abstract: BACKGROUND
  JAK2V617F is found in the majority of patients with Ph- myeloproliferative neoplasms (MPNs) and has become a valuable marker for diagnosis of MPNs. However, it has also been found in many other hematological diseases, and some studies even detected the presence of JAK2V617F in normal blood samples. This casts doubt on the primary role of JAK2V617F in the pathogenesis of MPNs and its diagnostic value.
  
  
  METHODS
  In the present study, we analyzed JAK2V617F positivity with 232 normal blood samples and 2663 patient blood, bone marrow, and amniotic fluid specimens obtained from a clinical genetics laboratory by using a simple DNA extraction method and a sensitive nested allele-specific PCR strategy.
  
  
  RESULTS
  We found JAK2V617F present in the majority (78%) of MPN patients and in a small fraction (1.8-8.7%) of patients with other specific hematological diseases but not at all in normal healthy donors or patients with non-hematological diseases. We also revealed associations of JAK2V617F with novel as well as known chromosomal abnormalities.
  
  
  CONCLUSIONS
  Our study suggests that JAK2V617F positivity is associated with specific hematological malignancies and is an excellent diagnostic marker for MPNs. The data also indicate that the nested allele-specific PCR method provides clinically relevant information and should be conducted for all cases suspected of having MPNs as well as for other related diseases.
authors.affiliation: Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA.
authors.forename: Wanming
authors.initials: W
authors.lastname: Zhao
authors.forename: Rufei
authors.initials: R
authors.lastname: Gao
authors.forename: Jiyun
authors.initials: J
authors.lastname: Lee
authors.forename: Shu
authors.initials: S
authors.lastname: Xing
authors.forename: Wanting T
authors.initials: WT
authors.lastname: Ho
authors.forename: Xueqi
authors.initials: X
authors.lastname: Fu
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
authors.forename: Zhizhuang J
authors.initials: ZJ
authors.lastname: Zhao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000653:Amniotic Fluid / Q000201:enzymology; D001853:Bone Marrow / Q000201:enzymology; D005260:Female; D006402:Hematologic Diseases / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000235:genetics; D016133:Polymerase Chain Reaction
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2