Analysis of tumor heterogeneity in acute myeloid leukemia

• Project/Area Number: 26670466
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Hematology
• Research Institution: Kyoto University
• Principal Investigator: OGAWA seishi 京都大学, 医学(系)研究科(研究院), 教授 (60292900)
• Project Period (FY): 2014-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2014: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
• Keywords: 急性骨髄白血病 / 腫瘍内多様性 / 全エクソンシーケンス

Outline of Final Research Achievements

To clarify tumor heterogeneity in acute myeloid leukemia (AML), we performed multi-sampling and whole-exome sequencing in two AML autopsy cases. The specimens examined included those obtained from bone marrow (5-7 sites), peripheral blood, plasma, and buccal smear (germline control). As a result, we identified 28-68 mutations in these samples, consisting of shared and private mutations. Interestingly, we found that the more distant the compared bone marrow sites, the more the number of private mutations between them. These results suggest the presence of tumor heterogeneity and its feature in AML.