Identification of New Subtypes and Elucidation of Molecular Pathogenesis in Adult B-Cell Acute Lymphoblastic Leukemia

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K08384
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 54010:Hematology and medical oncology-related
• Research Institution: National Hospital Organization Nagoya Medical Center
• Principal Investigator: Yasuda Takahiko 独立行政法人国立病院機構(名古屋医療センター臨床研究センター), その他部局等, 分子診断研究室長 (20723977)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: acute leulemia / subtype / RNA-seq

Outline of Final Research Achievements

Of the 354 adult B-ALL cases analyzed by integrating gene expression and gene mutation information, approximately 85% of the cases could be classified into 18 distinct subtypes. The most frequent subtype was characterized by the ZNF384 fusion gene (ZNF384 subtype), accounting for about 20% of the total cases and identified as the largest subtype among Japanese patients. Additionally, two novel subtypes, not previously reported (CDX2 subtype and IDH1/2 subtype), were discovered, characterized by high expression of the CDX2 gene and mutations in IDH1/2, respectively.

Free Research Field

血液学

Academic Significance and Societal Importance of the Research Achievements

新規両病型は、小児と比較してAYA・成人に好発し、予後が極めて不良であることから、AYA・成人の急性リンパ性白血病が小児と比べて予後不良である一つの原因になっていると考えられた。これらの成果により、病型の特徴に応じた最適な治療戦略の確立が期待される。特に一部の予後不良な病型に対しては、治療成績向上のため、同種造血幹細胞移植を積極的に実施するなど、治療の強化が必要と考えられる。