Integrated analysis of clonal evolution at early stage of myelodysplastic syndrome.

2015 Fiscal Year Final Research Report

• Project/Area Number: 26893127
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Hematology
• Research Institution: Kyoto University
• Principal Investigator: Nagata Yasunobu 京都大学, 医学(系)研究科(研究院), 助教 (90739575)
• Project Period (FY): 2014-08-29 – 2016-03-31
• Keywords: 骨髄異形成症候群 / 全エクソンシークエンス / 再生不良性貧血

Outline of Final Research Achievements

We performed whole exome sequencing of 22 patients who diagnosed aplastic anemia and progressed myelodysplatic syndromes, which identified 66 mutations. They included not only PIGA which was already reported in aplastic anemia but also BCOR and BCORL1 which were not. Given analysis of different time points of several years from diagnosis, a tiny clone with mutations increased and acquired novel genetic alterations such as SETBP1 mutations, which related to advanced disease. In conclusion, variation of complicated clone structure informs the evolution from aplastic anemia to myelodysplatic syndrome.

Free Research Field

骨髄系腫瘍