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

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13 Citations (Scopus)

Abstract

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
Volume134
Issue number2
DOIs
Publication statusPublished - 2010 Aug 1

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Polycythemia Vera
Exons
Mutation
Incidence
Platelet Count
Taiwan

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

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title = "High percentage of JAK2 exon 12 mutation in asian patients with polycythemia vera",
abstract = "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.",
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High percentage of JAK2 exon 12 mutation in asian patients with polycythemia vera. / Yeh, Yu-Min; Chen, Yi Lin; Cheng, Hsieh Yin; Su, Wu-Chou; Chow, Nan-Haw; Chen, Tsai-Yun; Ho, Chung-Liang.

In: American Journal of Clinical Pathology, Vol. 134, No. 2, 01.08.2010, p. 266-270.

Research output: Contribution to journalArticle

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AU - Ho, Chung-Liang

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