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

    Research output: Contribution to journalArticle

    21 Citations (Scopus)

    Abstract

    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
    Volume99
    Issue number5
    DOIs
    Publication statusPublished - 2014

    Fingerprint

    Polycythemia Vera
    Japan
    Alleles
    Mutation
    Neoplasms
    Erythrocyte Volume
    Erythrocyte Count
    Competitive Binding
    Protein-Tyrosine Kinases
    Hemoglobins
    Thrombosis
    Polymerase Chain Reaction

    Keywords

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

    ASJC Scopus subject areas

    • Hematology

    Cite this

    Edahiro, Y., Morishita, S., Takahashi, K., Hironaka, Y., Yahata, Y., Sunami, Y., ... Komatsu, N. (2014). JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan. International Journal of Hematology, 99(5), 625-634. https://doi.org/10.1007/s12185-014-1567-1

    JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan. / Edahiro, Yoko; Morishita, Soji; Takahashi, Kochi; Hironaka, Yumi; Yahata, Yuriko; Sunami, Yoshitaka; Shirane, Shuichi; Tsutsui, Miyuki; Noguchi, Masaaki; Koike, Michiaki; Imai, Kiyotoshi; Kirito, Keita; Noda, Naohiro; Sekiguchi, Yuji; Tsuneda, Satoshi; Ohsaka, Akimichi; Araki, Marito; Komatsu, Norio.

    In: International Journal of Hematology, Vol. 99, No. 5, 2014, p. 625-634.

    Research output: Contribution to journalArticle

    Edahiro, Y, Morishita, S, Takahashi, K, Hironaka, Y, Yahata, Y, Sunami, Y, Shirane, S, Tsutsui, M, Noguchi, M, Koike, M, Imai, K, Kirito, K, Noda, N, Sekiguchi, Y, Tsuneda, S, Ohsaka, A, Araki, M & Komatsu, N 2014, 'JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan' International Journal of Hematology, vol. 99, no. 5, pp. 625-634. https://doi.org/10.1007/s12185-014-1567-1
    Edahiro, Yoko ; Morishita, Soji ; Takahashi, Kochi ; Hironaka, Yumi ; Yahata, Yuriko ; Sunami, Yoshitaka ; Shirane, Shuichi ; Tsutsui, Miyuki ; Noguchi, Masaaki ; Koike, Michiaki ; Imai, Kiyotoshi ; Kirito, Keita ; Noda, Naohiro ; Sekiguchi, Yuji ; Tsuneda, Satoshi ; Ohsaka, Akimichi ; Araki, Marito ; Komatsu, Norio. / JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan. In: International Journal of Hematology. 2014 ; Vol. 99, No. 5. pp. 625-634.
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    abstract = "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.",
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    AU - Morishita, Soji

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    AU - Hironaka, Yumi

    AU - Yahata, Yuriko

    AU - Sunami, Yoshitaka

    AU - Shirane, Shuichi

    AU - Tsutsui, Miyuki

    AU - Noguchi, Masaaki

    AU - Koike, Michiaki

    AU - Imai, Kiyotoshi

    AU - Kirito, Keita

    AU - Noda, Naohiro

    AU - Sekiguchi, Yuji

    AU - Tsuneda, Satoshi

    AU - Ohsaka, Akimichi

    AU - Araki, Marito

    AU - Komatsu, Norio

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