Development of an epoch-making method for identification of Down syndrome patients with TAM who will subsequently develop acute megakaryoblastic leukemia

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K15384
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Hirosaki University
• Principal Investigator: Ito Etsuro 弘前大学, 医学研究科, 教授 (20168339)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: TAM / Down症候群 / 急性巨核芽球性白血病 / GATA1

Outline of Final Research Achievements

The goal of this study is to develop an epoch-making method for identification of Down syndrome patients with transient abnormal myelopoiesis (TAM) who will subsequently develop acute megakaryoblastic leukemia (DS-AMKL) and establish the base for developing the prophylaxis for DS-AMKL. The results of this study are as follows. All patients with TAM and DS-AMKL have GATA1 mutations. To detect minimal residual diseases (MRD) of TAM, we developed highly sensitive methods to detect GATA1 mutations (sensitivity 0.02%) using target next-generation sequencing. We next performed whole exome sequencing of 40 sets of samples from DS-AMKL patients at diagnosis of AMKL and remission phases, and identified several novel mutational targets, which will be useful as MRD markers.

Free Research Field

小児血液学