Genetic analysis of blast crisis in juvenile myelomonocytic leukemia

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860794
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Nagoya University
• Principal Investigator: Okuno Yusuke 名古屋大学, 医学部附属病院, 特任講師 (00725533)
• Research Collaborator: MURAMATSU Hideki 名古屋大学, 医学部附属病院・小児科, 助教 ; KOJIMA Seiji 名古屋大学, 大学院医学系研究科, 教授
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 若年性骨髄単球性白血病 / 次世代シーケンサー / 全エクソーム解析 / 急性転化

Outline of Final Research Achievements

Juvenile myelomonocytic leukemia (JMML) is an intractable hematological disease of childhodd. Despite the treatment with hematopoietic stem cell transplantation, the prognosis is poor. Among the cause of death is a blast criris, of which molecular pathogenesis still remains to be elucidated. In this study, we performed a comprehensive genetic analysis including whole-exome sequencing in three patients with JMML. In a patient whose JMML progressed to a sarcoma, we identified a uniparental disomy event in NRAS, resulting in homozygous activating mutataion. In another patient who developed a mature B-cell leukemia, we identified an acquisition of pathogenic IGH-MYC gene fusion. In the other patient who developed B-cell precursor acute lymphoblastic leukemia, however, we did not identify any acquired genetic lesions.

Free Research Field

小児科学