The study of the prognostic factor search in pediatric acute myeloid leukemia using the next generation sequencing and MLPA method

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461599
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Center for Child Health and Development (2015-2016); Gunma Institute of Public Health and Environmental Sciences (2014)
• Principal Investigator: Ohki Kentaro 国立研究開発法人国立成育医療研究センター, 小児血液・腫瘍研究部, 室長 (50400966)
• Research Collaborator: HARA YUSUKE 群馬大学, 小児科 ; YOSHIDA KENICHI 京都大学
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 遺伝子 / 小児がん / 急性骨髄性白血病 / 次世代シーケンス解析 / MLPA解析

Outline of Final Research Achievements

Acute myeloid leukemia (AML) is a molecularly and clinically heterogeneous disease. In this study, whole-exome sequencing (WES) of 63 pediatric AML patients revealed mutations in components of the cohesin complex (RAD21 and SMC3), BCORL1 and ASXL2 in addition to previously known gene mutations. We also revealed intratumoural heterogeneities in many patients, implicating multiple clonal evolution events in the development of AML.
Whole-transcriptome sequencing (WTS) and real-time polymerase chain reaction of pediatric de novo AML patients revealed PRDM16 gene overexpression. The overall survival (OS) and event-free survival (EFS) among PRDM16- overexpressing patients were significantly worse than in patients with low PRDM16 expression (3-year OS: 51% vs. 81%, p<0.001, 3-year EFS: 32% vs. 64%, p <0.001) irrespective of other cytogenetic alterations except for NPM1.

Free Research Field

Oncology