An analysis of blastic plasmacytoid dendritic cell neoplasm based on a newly identified genetic abnormality

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K18338
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human pathology; Tumor diagnostics
• Research Institution: Japanese Foundation for Cancer Research
• Principal Investigator: SAKAMOTO Kana 公益財団法人がん研究会, がん研究所 分子標的病理プロジェクト, 研究員 (50778008)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: 芽球性形質細胞様樹状細胞腫瘍

Outline of Final Research Achievements

Through examination of 118 Blastic plasmacytoid dendritic cell neoplasm (BPDCN) cases, we revealed that BPDCN can be stratified according to the MYC status. MYC+BPDCN and MYC-BPDCN were different in pathological and clinical aspects. We also performed functional analyses using BPDCN cell lines. In BPDCN, 8q24 rearrangement was strongly associated with immunoblastoid cytomorphology and MYC expression. It is further associated with drug response and could be the biomarkers for potential therapeutic approaches for BPDCN.

Free Research Field

人体病理学

Academic Significance and Societal Importance of the Research Achievements

BPDCN において、MYC 異常（遺伝子再構成および発現異常）が高頻度（約40%）に見られ、かつ、それが細胞形態観察時に推測可能であること、薬剤感受性と関連することを明らかにした。MYC 異常に基づく分類は、BPDCN の病態解明と新たな治療戦略開発に寄与するものと期待される。