Genetic Study Identifies Potential Diagnostic Marker for Rare Blood Cancer BPDCN
Oct 22, 2025
Explore the complexities of blastic plasmacytoid dendritic cell neoplasm (BPDCN), a rare blood cancer often confused with leukemia. Discover insights from a genetic study that identifies common mutations linked to survival. Learn about CCDC50, a potential diagnostic marker that could improve diagnosis and treatment response monitoring. The discussion highlights the importance of understanding BPDCN's genetic profile while addressing the need for larger studies to confirm these findings.
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insights INSIGHT
BPDCN's Genetic Profile Clarifies Diagnosis
BPDCN closely mimics other leukemias, complicating diagnosis and treatment decisions.
Genetic profiling revealed recurrent mutations and distinct expression patterns that clarify disease biology.
insights INSIGHT
BPDCN Is Aggressive With Poor Survival
BPDCN often affects skin, bone marrow, and lymph nodes and remains aggressive despite therapeutic advances.
Median survival remains low at one to two years, underscoring urgency for better diagnostics and treatments.
insights INSIGHT
Mutations Predict Worse Outcomes
Targeted DNA and RNA NGS on 21 BPDCN patients revealed frequent TET2 and ASXL1 mutations linked to poorer survival.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare blood cancer that primarily affects older adults. One of the key challenges in diagnosing and treating BPDCN is that it closely resembles other forms of leukemia in both appearance and behavior. This overlap often leads to delays or uncertainty in diagnosis, especially since currently there is no single, reliable marker that clearly distinguishes BPDCN from related diseases.
To address this issue, researchers from the City of Hope Comprehensive Cancer Center investigated the genetic profile of BPDCN. Their study, titled “Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience,” was published in Oncotarget (Volume 16).
Full blog - https://www.oncotarget.org/2025/10/22/genetic-study-identifies-potential-diagnostic-marker-for-rare-blood-cancer-bpdcn/
Paper DOI - https://doi.org/10.18632/oncotarget.28742
Correspondence to - Michelle Afkhami - mafkhami@coh.org
Abstract video - https://www.youtube.com/watch?v=wUjr3uU3onI
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Keywords - cancer, Blastic plasmacytoid dendritic cell neoplasm (BPDCN), Next-generation sequencing (NGS), CCDC50
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