image: Figure 4: CCDC50 expression is significantly upregulated in BPDCN patients. (A) CCDC50 expression is significantly higher in bone marrow aspirates from BPDCN patients compared to those with AML or CMML (p < 0.0001). Control BM (n = 10): bone marrow aspirates without evidence of hematological malignancy; BPDCN (n = 6): bone marrow aspirates with confirmed BPDCN involvement; Negative BM (n = 10): bone marrow aspirates from patients with a history of BPDCN but without current involvement; AML (n = 10): bone marrow aspirates with AML involvement; CMML (n = 10): bone marrow aspirates with CMML involvement. (B) CCDC50 expression is also significantly elevated in bone marrow clot sections from BPDCN patients (p < 0.0001). Control BM (n = 9): bone marrow clot sections without evidence of hematological malignancy; BPDCN (n = 8): bone marrow clot sections with confirmed BPDCN involvement; Negative BM (n = 5): bone marrow clot sections from patients with a history of BPDCN but without current involvement.
Credit: Copyright: © 2025 Fei et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
“Our findings demonstrate that the mutational landscape of BPDCN is similar to that observed in other myeloid neoplasms, and we identified CCDC50 as a potential biomarker for this disease.”
BUFFALO, NY – July 7, 2025 – A new research paper was published in Volume 16 of Oncotarget on June 17, 2025, titled “Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.”
In this study, a research team led by first author Fei Fei and corresponding author Michelle Afkhami from the City of Hope Comprehensive Cancer Center investigated a rare and aggressive type of blood cancer called blastic plasmacytoid dendritic cell neoplasm (BPDCN). Their research uncovered frequent mutations in key genes and identified CCDC50 as a potential biomarker for diagnosis and disease monitoring. These findings could help improve how this cancer is detected and treated in the future.
BPDCN most often affects older adults and is known for its rapid progression and poor survival rates. The researchers performed genetic sequencing on 21 patients to better understand the disease. They found that two genes, TET2 and ASXL1, were frequently mutated in these patients and were linked to worse survival, especially in those over 65 years old.
“Our study revealed that TET2 (57%) and ASXL1 (33%) were the most frequently mutated genes, followed by NRAS (29%), SRSF2 (14%), ZRSR2 (14%), and KMT2D (14%).”
The study also discovered that a gene called CCDC50 was expressed at much higher levels in BPDCN samples compared to other blood cancers, such as acute myeloid leukemia and chronic monomyelocytic leukemia. This suggests that CCDC50 may help clinicians distinguish BPDCN from other similar diseases. Importantly, CCDC50 levels dropped significantly in patients whose disease went into remission, highlighting its potential as a tool for tracking disease activity over time.
Researchers further observed that patients who received stem cell transplants lived longer than those who did not, reinforcing the importance of this treatment approach. However, BPDCN remains a challenging disease with an overall poor outlook, making these findings an important step toward better care.
This research provides new insights into the genetic changes behind BPDCN and points to CCDC50 as a promising marker to improve diagnosis and monitor treatment success. Larger studies will be needed to confirm these results and bring these discoveries closer to use in routine medical practice.
Continue reading: DOI: https://doi.org/10.18632/oncotarget.28742
Correspondence to: Michelle Afkhami – mafkhami@coh.org
Keywords: cancer, Blastic plasmacytoid dendritic cell neoplasm (BPDCN), Next-generation sequencing (NGS), CCDC50
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Journal
Oncotarget
Method of Research
News article
Subject of Research
Cells
Article Title
Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience
Article Publication Date
17-Jun-2025
COI Statement
Authors have no conflicts of interest to declare.