2015 Fiscal Year Final Research Report
Exploring novel JAK2 mutations for definitive diagnostics of polycythemia vera
| Project/Area Number |
25860416
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Laboratory medicine
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| Research Institution | Juntendo University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| 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 |
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| 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.
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| Free Research Field |
病態検査医学
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