Genetic abnormalities in acute myeloid leukemia at relapse

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461431
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Hematology
• Research Institution: Saitama Medical University
• Principal Investigator: Asou Norio 埼玉医科大学, 医学部, 教授 (50175171)
• Research Collaborator: MISHIMA Masayo ; FUJINAMI Miki
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 急性骨髄性白血病 / 再発 / 遺伝子変異 / サブクローン / 単一細胞PCR

Outline of Final Research Achievements

Gene mutations in patients with acute myeloid leukemia (AML) at initial diagnosis and relapse were examined. Mutations in the NPM1, FLT3, CEBPA, IDH1, IDH2, DNMT3A, WT1 and TP53 genes, that were frequently identified in AML patients, were mainly analyzed. Most AML patients with NPM1 mutation concomitantly had DNMT3A, FLT3, IDH1 or IDH2 mutation. Some gene mutations were withdrawn and others were acquired at relapse. In pair samples at diagnosis and relapse, it is analyzing whether an acquired gene mutation at relapse presents as a minor subclone at initial diagnosis by using whole exon sequencing and single cell PCR. These sequential molecular studies may yield valuable insights into the mechanism of leukemic recurrence.

Free Research Field

血液内科学