High Percentage of JAK2 Exon 12 Mutation in Asian Patients With Polycythemia Vera

作者：Yeh Yu Min; Chen Yi Lin; Cheng Hsieh Yin; Su Wu Chou; Chow Nan Haw; Chen Tsai Yun^*; Ho Chung Liang

来源：American Journal of Clinical Pathology, 2010, 134(2): 266-270.

DOI：10.1309/AJCPK7KGOWPHYWM0

• JAK2(V617F)
• Exon 12 mutation
• Polycythemia vera
• Taiwan

We examined the occurrence of JAK2(V617F) 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, 1540-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.

• 出版日期2010-8