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Blood, 1 January 2007, Vol. 109, No. 1, pp. 339-342.
Prepublished online as a Blood First Edition Paper on August 31, 2006; DOI 10.1182/blood-2006-03-009472.
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NEOPLASIA
Brief report
JAK2V617F: prevalence in a large Chinese hospital population
Xuesong Xu1,2,
Qi Zhang1,
Jian Luo1,
Shu Xing1,3,
Qingshan Li1,
Sanford B. Krantz4,
Xueqi Fu1,, and
Zhizhuang Joe Zhao1,3,
1 Edmond H. Fischer Signal Transduction Laboratory, College of Life Sciences, Jilin University, Changchun, China;
2 Clinical Laboratory, China Japan Union Hospital, Jilin University, Changchun, China;
3 Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City;
4 Hematology/Oncology Division, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN
Recently, the JAK2V617F 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 JAK2V617F 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.

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