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

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23 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)266-270
Number of pages5
JournalAmerican Journal of Clinical Pathology
Issue number2
Publication statusPublished - 2010 Aug

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine


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