High percentage of JAK2 exon 12 mutation in asian patients with polycythemia vera

Yu Min Yeh, Yi Lin Chen, Hsieh Yin Cheng, Wu Chou Su, Nan Haw Chow, Tsai Yun Chen, Chung Liang Ho

研究成果: Article同行評審

23 引文 斯高帕斯(Scopus)

摘要

We examined the occurrence of JAK2V617F and JAK2 exon 12 mutations in a clinical cohort of polycythemia vera (PV) in Taiwan. Of 22 patients with PV, 17 (77%) had the V617F mutation, and all 5 V617F-negative patients (23%) had the exon 12 mutation. We found 3 different exon 12 mutations: 3 N542-E543del, 1 F537-K539delinsL, and 1 novel mutation, I540-E543delinsKK. Patients with V617F showed significantly higher WBC and platelet counts at diagnosis than patients with exon 12 mutations (P = .021 and P = .038, respectively). We report a surprisingly high incidence of exon 12 mutations in Taiwanese patients with PV, a result quite different from reports in the Western literature (P = .001). Our data suggest that exon 12 mutation of JAK2 in patients with PV may have an uneven geographic distribution. A clinical laboratory providing the V617F test alone may risk missing a substantial number of patients with PV in areas with a high incidence of exon 12 mutation.

原文English
頁(從 - 到)266-270
頁數5
期刊American Journal of Clinical Pathology
134
發行號2
DOIs
出版狀態Published - 2010 8月

All Science Journal Classification (ASJC) codes

  • 病理學與法醫學

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