2016 Fiscal Year Final Research Report
Investigation of the pathogeneisis of myelodysplastic syndromes and its therapeutic biomarkers
| Project/Area Number |
15H05668
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Hematology
|
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2017-03-31
|
| Keywords | 骨髄異形成症候群 |
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| Outline of Final Research Achievements |
RNA sequencing of myelodysplastic syndromes revealed characteristic splicing abnormalities caused by mutations in RNA splicing factors, which were likely to be underlying mechanism of MDS pathogenesis. Gene expression analysis also separated MDS samples into two distinct groups, which were correlated with distinct prognosis. Whole-exome sequencing of serially collected MDS samples depicted complex pattern of clonal evolution in MDS patients with and without therapy. Targeted sequencing of MDS before and after treatment of demethylating agent, azacidine, revealed that most patient achieving complete remission harbored TP53 mutations, suggesting that TP53 mutations could be a therapeutic marker of azacitidine treatment.
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| Free Research Field |
造血器腫瘍
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