Submitted March 13, 2006
Accepted August 16, 2006
JAK2V617F: Prevalence in a large Chinese hospital population
Xuesong Xu, Qi Zhang, Jian Luo, Shu Xing, Qingshan Li, Sanford B. Krantz, Xueqi Fu, and Zhizhuang J. Zhao*
Edmond H. Fischer Signal Transduction Laboratory, College of Life Sciences, Jilin University, China
Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA
* Corresponding author; email: joe-zhao{at}ouhsc.edu.
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 out of 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 non-hematological 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.
