JAK2(V617F): Prevalence in a large Chinese hospital population.
Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative disorders (MPDs), including most with polycythemia vera (PV). The mutant JAK2 has increased kinase activity, and it was shown to be pathogenic in mouse models. Herein, we analyzed blood samples randomly collected from a clinical laboratory. Surprisingly, as many as 37 samples from a total of 3935 were found positive for the JAK2 mutation. However, only one of these samples had blood test results indicative for probable PV, but several had nonhematologic diseases. On average, samples with the mutation had normal red cell counts but significantly higher white blood cell and platelet counts, although most were within the normal range. The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs. Its occurrence may be a prelude to full blood cell abnormalities and other diseases, but it cannot by itself diagnose MPDs.
Xu
Xuesong
X
Edmond H. Fischer Signal Transduction Laboratory, College of Life Sciences, Jilin University, Changchun, 130023, China.
Zhang
Qi
Q
Luo
Jian
J
Xing
Shu
S
Li
Qingshan
Q
Krantz
Sanford B
SB
Fu
Xueqi
X
Zhao
Zhizhuang Joe
ZJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001483:Base Sequence; D015415:Biomarkers; D001772:Blood Cell Count; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D003953:Diagnosis-Related Groups; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007297:Inpatients; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012494:Sampling Studies; D012680:Sensitivity and Specificity
D015415:Biomarkers; C507924:JAK2 protein, human; D053614:Janus Kinase 2