Genetic Changes Found in BPDCN in Children
Genetic mutations are changes in a cell’s DNA that can affect how cells grow, divide, and function. Some mutations do not cause any problems. But others can help cancer develop. They allow abnormal cells to grow out of control.
Researchers study these genetic changes to better understand what drives a cancer, find who may be at higher risk for relapse, and discover new targets for treatment. Changes to the MYB gene have been found to play an important role in BPDCN cancer growth, and recent research suggests it’s especially important in BPDCN in children.
How often does BPDCN affect children?
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare type of blood cancer that can involve the skin, bone marrow, lymph nodes, and central nervous system. It often appears with skin lesions and progresses quickly, making early identification and tailored treatment important for care planning.
It is estimated that BPDCN occurs in 500 to 1,000 people in the United States each year. Most of them are adults, with the average age of diagnosis around 60 to 70 years. But it can also happen in younger adults and in children. Because it is so rare, research on BPDCN in pediatric patients is limited.
How did researchers study genetic changes in pediatric BPDCN?
Researchers reviewed medical records from 21 children and adolescents diagnosed with BPDCN between 2000 and 2025. The goal of the study was to better understand the genetic changes that drive pediatric BPDCN.
Researchers focused on gathering information about where the cancer was found at diagnosis, the treatments used, and patient outcomes. In addition to this, researchers conducted genetic testing to identify gene mutations and DNA changes.
What did researchers find about pediatric BPDCN?
Most children in the study had cancer involving the skin (80%), while many also had disease in the bone marrow (56%), lymph nodes (57%), or central nervous system (45%).
The MYB gene helps control how blood cells grow, develop, and mature. In healthy cells, MYB activity is tightly regulated. In BPDCN, changes involving the MYB gene can cause it to stay “turned on” when it shouldn’t, allowing cancer cells to continue growing and surviving. MYB mutations occur more frequently in children with BPDCN than adults.
In addition to the MYB gene, researchers also found additional genetic changes affecting pathways involved in cell growth and division, particularly RAS-pathway genes (such as NRAS and KRAS) and genes that regulate the cell cycle.
These findings improve our understanding of the biology of pediatric BPDCN and may help guide future research into more personalized treatment approaches and better ways to identify children who could benefit from closer monitoring or targeted therapies. Additional research about genetic mutations can lead to improved treatments and ultimately a cure for pediatric BPDCN.
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Bethany Howell
Bethany joined HealthTree in 2025. She is passionate about supporting patients and their care partners and improving access to quality care.