| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
The prognosis of primary myelofibrosis (PMF) is poor in comparison to that of other subtypes of myeloproliferative neoplasms. To investigate the relationship between mutations and prognosis of PMF, a massively parallel target sequencing identifying mutations on 72 regions locating at MPNs-relevant 14 genes (CSF3R, MPL, JAK2, CALR, DNMT3A, TET2, EZH2, ASXL1, IDH1/2, SRSF2, SF3B1, U2AF1, and TP53) have designed and the mutation spectrum of 101 Japanese patients having overt or prefibrotic PMF diagnosed by WHO 2016 criteria. As a result, 66 out of 101 PMF patients (65.3%) harbored any mutations other than JAK2, CALR, or MPL mutations. In the 66 patients, ASXL1 mutations were the most frequently detected (42.6%). The prognostic risk classification based on the combination of CALR and ASXL1 mutation revealed that the CALR-/ASXL1+ group had significantly higher mutation load (P<.001). We also clarified that SRSF2 mutations strongly associated to the highly risks predicted by DIPSS (P<.05).
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