Integrative analysis of DNA and RNA structural analysis in refractory leukemia in children

2016 Fiscal Year Final Research Report

• Project/Area Number: 26713037
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Partial Multi-year Fund
• Research Field: Pediatrics
• Research Institution: National Center for Child Health and Development (2015-2016); The University of Tokyo (2014)
• Principal Investigator: Kato Motohiro 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, 医長 (40708690)
• Co-Investigator(Renkei-kenkyūsha): Ogawa Seishi 京都大学, 腫瘍生物学, 教授 (60292900) ; TAKITA Junko 東京大学, 小児科, 准教授 (00359621)
• Research Collaborator: SEKI Masafumi
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 癌 / 小児白血病 / 分子遺伝学

Outline of Final Research Achievements

We investigated molecular biology underlying development of pediatric leukemia, through whole exome sequencing and whole transcriptome sequencing.
In acute lymphoblastic leukemia in children, using intron capture analysis, we identified translocations which predicted clinical outcome under short maintenance therapy, which could contribute to optimization of therapy duration. Furthermore, we reported mechanisms in false-negative in FISH analysis for NUP214-ABL1 fusion in refractory leukemia, and we also reported that duplication of mutant KRAS by gain of chromocome 12 caused blastic crisis of Juvenile myelomonocytic leukemia. Additionally, via transcriptome sequencing, we identified a novel fusion including SPI1, a transcription factor, in pediatric T-cell acute lymphoblastic leukemia.

Free Research Field

小児血液・腫瘍学