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Exploring novel JAK2 mutations for definitive diagnostics of polycythemia vera

Research Project

Project/Area Number 25860416
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Laboratory medicine
Research InstitutionJuntendo University

Principal Investigator

Morishita Soji  順天堂大学, 医学部, 助教 (10635866)

Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2015: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords真性赤血球増加症 / 骨髄増殖性腫瘍 / JAK2遺伝子 / 次世代シークエンス / 遺伝子変異検出 / JAK2V617F変異検出
Outline of Final Research Achievements

Myeloproliferative neoplasms (MPNs) are a group of diseases characterized by a clonal expansion of the hematopoietic/progenitor stem cells and an overproduction of blood cells, and mainly consists of polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The JAK2 mutation positivity in these diseases was 94.4% in PV, 51.9% in ET, and 54.7% in PMF. In the mutant JAK2 negative PV cohort, 2 recurrent SNPs were identified using next generation sequencing based technique targeting whole JAK2 exons. These SNPs are specifically identified in Asians; however, both of the two are silent-mutations. For the diagnostic of PV, detecting the positivity of JAK2 mutations should be considered.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (15 results)

All 2015 2014 2013

All Journal Article (4 results) (of which Peer Reviewed: 4 results,  Open Access: 3 results,  Acknowledgement Compliant: 2 results) Presentation (10 results) (of which Int'l Joint Research: 2 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] Melting curve analysis after T allele enrichment (MelcaTle) as a highly sensitive and reliable method for detecting the JAK2V617F mutation.2015

    • Author(s)
      Morishita S, Takahashi K, Araki M, Hironaka Y, Sunami Y, Edahiro Y, Tsutsui M, Ohsaka A, Tsuneda S, Komatsu N.
    • Journal Title

      PLoS One

      Volume: 10 Issue: 3 Pages: e0122003-e0122003

    • DOI

      10.1371/journal.pone.0122003

    • Related Report
      2015 Annual Research Report 2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] JAK2, CALR, and MPL mutation status in Japanese myeloproliferative neoplasms patients2015

    • Author(s)
      Shirane S, Araki M, Morishita S, Edahiro Y, Sunami Y, Hironaka Y, Noguchi M, Koike M, Ohsaka A, and Komatsu N
    • Journal Title

      Haematologica

      Volume: 100 Issue: 2 Pages: e46-e48

    • DOI

      10.3324/haematol.2014.115113

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Detection of MPLW515L/K mutations and determination of allele frequencies with a single-tube PCR assay2014

    • Author(s)
      Takei H, Morishita S, Araki M, Edahiro Y, Sunami Y, Hironaka Y, Noda N, Sekiguchi Y, Tsuneda S, Ohsaka A, and Komatsu N
    • Journal Title

      PLoS ONE

      Volume: 9 Issue: 8 Pages: e104958-e104958

    • DOI

      10.1371/journal.pone.0104958

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan2014

    • Author(s)
      EdahiroY, Morishita S, Takahashi K, Hironaka Y, Yahata Y, Sunami Y, Shirane S, Tsutsui M, Noguchi M, Koike M, Imai K, Noda N, Sekiguchi Y, Tsuneda S, Ohsaka A, Araki M, Komatsu N
    • Journal Title

      Int J Hematol

      Volume: 99(5) Issue: 5 Pages: 625-634

    • DOI

      10.1007/s12185-014-1567-1

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Activation of AP-1 by JAK2V617F through induction and stabilization of c-FOS2015

    • Author(s)
      Edahiro Y, Araki M, Hironaka Y, Yang I, Morishita S, Sunami Y, Ohsaka A, and Komatsu N
    • Organizer
      The 57th ASH Annual Meeting
    • Place of Presentation
      Orlando, FL, USA
    • Year and Date
      2015-12-05
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Early disease onset of patients with triple-negative myeloproliferative neoplasms2015

    • Author(s)
      白根脩一,荒木真理人,森下総司,枝廣陽子,竹井拓,津村真知子,弘中由美,落合友則,三澤恭平,大坂顯通,小松則夫
    • Organizer
      第77回日本血液学会学術集会
    • Place of Presentation
      石川県金沢市
    • Year and Date
      2015-10-16
    • Related Report
      2015 Annual Research Report
  • [Presentation] A highly specific method for detecting a single copy JAK2V617F mutation2015

    • Author(s)
      森下総司,荒木真理人,弘中由美,角南義孝,枝廣陽子,筒井深雪,大坂顯通,小松則夫
    • Organizer
      第77回日本血液学会学術集会
    • Place of Presentation
      石川県金沢市
    • Year and Date
      2015-10-16
    • Related Report
      2015 Annual Research Report
  • [Presentation] Establishment of iPS cells from myeloproliferative neoplasms patients with CALR mutation2015

    • Author(s)
      竹井拓,森下総司,荒木真理人,水上喜久,枝廣陽子,角南義孝,弘中由美,津村真知子,常田聡,遠藤大,中村壮,江藤浩之,大坂顯通,小松則夫
    • Organizer
      第77回日本血液学会学術集会
    • Place of Presentation
      石川県金沢市
    • Year and Date
      2015-10-16
    • Related Report
      2015 Annual Research Report
  • [Presentation] A interim analysis of stop trial against CMP-CP in CMR patients who had received sequential TKIs2015

    • Author(s)
      佐藤恵理子,森下総司,野口雅章,小池道明,大津洋,小松則夫
    • Organizer
      第77回日本血液学会学術集会
    • Place of Presentation
      石川県金沢市
    • Year and Date
      2015-10-16
    • Related Report
      2015 Annual Research Report
  • [Presentation] Melting curve analysis after T allele enrichment: a highly sensitive and reliable method for detecting the JAK2V617F mutation2015

    • Author(s)
      Morishita S, Takahashi K, Araki M, Hironaka Y, Sunami Y, Edahiro Y, Tsutsui M, Ohsaka A, Tsuneda S, and Komatsu N
    • Organizer
      The 6th JSH International Symposium
    • Place of Presentation
      Nagano, Japan
    • Year and Date
      2015-05-22
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Dynamic increase in JAK2V617F allele burden is a predictive parameter for the transformation into myelofibrosis from polycythemia vera and essential thrombocythosis2014

    • Author(s)
      Shirane S, Araki M, Morishita S, Hironaka Y, Noguchi M, Koike M, Hirano T, Ohsaka A, and Komatsu N
    • Organizer
      The 56th ASH Annual Meeting
    • Place of Presentation
      San Francisco, CA, USA
    • Year and Date
      2014-12-06 – 2014-12-09
    • Related Report
      2014 Research-status Report
  • [Presentation] Establishment of a novel assay for MPLW515/K detection and allele burden measurement2014

    • Author(s)
      竹井拓,森下総司,荒木真理人,枝廣陽子,角南義孝,弘中由美,野田尚宏,関口勇地,常田聡,大坂顯通,小松則夫
    • Organizer
      第76回日本血液学会学術集会
    • Place of Presentation
      大阪
    • Year and Date
      2014-10-31 – 2014-11-02
    • Related Report
      2014 Research-status Report
  • [Presentation] MPL mutation analysis of Ph-negative myeloproliferative neoplasms in Japan2014

    • Author(s)
      枝廣陽子,白根脩一,竹井拓,森下総司,角南義孝,弘中由美,常田聡,大坂顯通,荒木真理人,小松則夫
    • Organizer
      第76回日本血液学会学術集会
    • Place of Presentation
      大阪
    • Year and Date
      2014-10-31 – 2014-11-02
    • Related Report
      2014 Research-status Report
  • [Presentation] An epidemiologic study of classical Ph-negative myeloproliferative neoplasms (MPNs) in Japan2013

    • Author(s)
      Yoko Edahiro, Soji Morishita, Kochi Takahashi, Yoshitaka Sunami, Yuriko Yahata, Marito Araki, Satoshi Tsuneda, Akimichi Ohsaka, and Norio Komatsu
    • Organizer
      第75回日本血液学会学術集会
    • Place of Presentation
      札幌
    • Related Report
      2013 Research-status Report
  • [Patent(Industrial Property Rights)] 遺伝子変異の検出方法及びそれに用いる蛍光標識オリゴヌクレオチド2015

    • Inventor(s)
      山口 正裕,蔵田 信也,小松 則夫,森下 総司
    • Industrial Property Rights Holder
      山口 正裕,蔵田 信也,小松 則夫,森下 総司
    • Industrial Property Rights Type
      特許
    • Filing Date
      2015-03-31
    • Acquisition Date
      2015-10-02
    • Related Report
      2015 Annual Research Report

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Published: 2014-07-25   Modified: 2019-07-29  

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