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Dana-Farber Cancer InstituteStudy Uncovers Role of Ultraviolet Radiation in Development of Rare Leukemia in the Skin

Despite concentrating on a rare type of cancer called blastic plasmacytoid dendritic cell neoplasm (BPDCN), the study may provide insight into how other malignancies, particularly those involving blood or lymph cells that circulate throughout the body via the bloodstream, originate.


New research by scientists at Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and the Broad Institute of MIT and Harvard unveils the unique evolution of a rare cancer that evolves in different tissues, offering new perspectives on cancer development and metastasis.

Key Points:

  • The study sheds light on the evolution of the rare cancer BPDCN, which develops in multiple tissues.
  • Researchers found that exposure to different environments triggers the evolution of premalignant cells to tumor cells.
  • BPDCN, typically diagnosed in older men, exhibits anomalies among leukemias.
  • In BPDCN, tumors often appear in the skin even when no abnormal cells are found in bone marrow or blood.
  • Researchers discovered that BPDCN likely starts in bone marrow as clonal hematopoiesis (CH), then progresses to skin leukemia with added mutations.

Additional Points:

  • A new technological approach called eXpressed Variant sequencing (XV-seq) helped track the progression of BPDCN.
  • UV radiation was found to cause additional mutations in BPDCN, turning mutated blood cells into leukemia cells.
  • The research showed that skin lesions almost always formed in sun-exposed areas, suggesting a role of UV exposure in disease progression.
  • The most common mutation in BPDCN, Tet2, was found to aid the survival of BPDCN cells under UV radiation, enabling further mutation.

Conclusion:

  • The research provides valuable insight into the progression of BPDCN and potentially other cancers that evolve in multiple sites or metastasize, with UV radiation exposure identified as a crucial factor in the disease’s development.

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“We found that almost all of them [skin lesions] occurred in sun-exposed areas. In other types of leukemia that can invade the skin, the lesions are randomly distributed across the skin. Our findings strongly suggest that skin exposure to UV rays, and the resulting genetic mutations, are part of the process of this disease.”

Andrew Lane, MD, PhD
Co-senior Author
Dana-Farber and the Broad Institute
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