JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan

Yoko Edahiro, Soji Morishita, Kochi Takahashi, Yumi Hironaka, Yuriko Yahata, Yoshitaka Sunami, Shuichi Shirane, Miyuki Tsutsui, Masaaki Noguchi, Michiaki Koike, Kiyotoshi Imai, Keita Kirito, Naohiro Noda, Yuji Sekiguchi, Satoshi Tsuneda, Akimichi Ohsaka, Marito Araki, Norio Komatsu*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)


JAK2V617F, a gain-of-function mutation in the tyrosine kinase JAK2, is frequently detected in classical myeloproliferative neoplasms (MPNs). In the present study, we determined the JAK2V617F allele burden in Japanese MPN patients using alternately binding probe competitive-polymerase chain reaction, a highly quantitative method recently developed by our group. Although we observed strong similarities in terms of epidemiological parameters associated with the JAK2V617F allele burden between our cohort and others, we found a higher JAK2V617F allele burden in Japanese polycythemia vera (PV) patients and lower frequencies of thrombosis in Japanese MPN patients compared with previous reports. In addition, despite the presence of high red blood cell counts, some patients bearing the JAK2V617F mutation were not diagnosed as PV, as their hemoglobin values were lower than the WHO PV criterion. In these patients, the JAK2V617F allele burden was strikingly similar to that in PV patients fulfilling the 2008 WHO criteria, suggesting that these patients can be classified as PV. Although isotopic measurement of red cell mass (RCM) is required for definitive diagnosis of PV, our data suggest that precise measurement of the JAK2V617F allele burden may improve the diagnosis of PV when RCM has not been determined.

Original languageEnglish
Pages (from-to)625-634
Number of pages10
JournalInternational Journal of Hematology
Issue number5
Publication statusPublished - 2014 May


  • Alternately binding probe competitive-polymerase chain reaction (ABC-PCR)
  • JAK2V617F allele burden
  • Myeloproliferative neoplasms (MPNs)
  • Polycythemia vera (PV)

ASJC Scopus subject areas

  • Hematology


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