Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience
PMCID: PMC12173198
PMID: 40526100
DOI: 10.18632/oncotarget.28742
Journal: Oncotarget
Publication Date: 2025
Authors: Fei F, Telatar M, Tomasian V, Chang L, Danilova O, et al.
Key Points
- TET2 and ASXL1 mutations were predominant, occurring in 57% and 33% of BPDCN cases, respectively
- Patients with ≥3 mutations and TET2 truncating mutations demonstrated significantly worse overall survival
- HSCT appears to be a critical intervention that may improve clinical outcomes in BPDCN patients
Summary
This comprehensive next-generation sequencing (NGS) study investigated the molecular landscape of blastic plasmacytoid dendritic cell neoplasm (BPDCN), a rare and aggressive hematological malignancy. Analyzing 21 patients, researchers characterized the genetic profile, revealing TET2 (57%) and ASXL1 (33%) as the most frequently mutated genes, with significant implications for prognosis and potential therapeutic targeting.
The study demonstrated that older age (≥65 years), presence of three or more mutations, TET2 mutations, and DNA methylation pathway alterations were associated with poorer clinical outcomes. Notably, patients undergoing hematopoietic stem cell transplantation (HSCT) exhibited more favorable clinical results. Additionally, the researchers identified CCDC50 as a promising diagnostic marker that could help distinguish BPDCN from acute myeloid leukemia (AML) and potentially serve as a disease monitoring tool.