2 results match your criteria: "Biomedical Research Institute of Salamanca and Spanish Network on Mastocytosis (REMA)[Affiliation]"

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a hematological malignancy characterized by recurrent skin nodules, an aggressive clinical course with rapid involvement of hematological organs, and a poor prognosis with overall survival. The rarity of the disease results in a few large-scale studies, a lack of controlled clinical trials for its management, and a lack of evidence-based guidelines. Here, we present a review of unmet clinical needs on the management of BPDCN by a panel of eleven experts involved in the research and clinical practice of BPDCN.

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Article Synopsis
  • Systemic mastocytosis (SM) is a rare disease caused by mutations in the KIT gene (most commonly KIT D816V), which is found in over 90% of adult patients and drives the disease's progression.
  • The presence of the KIT D816V mutation during blood cell development can lead to a higher tumor burden and other genetic mutations, increasing the risk of progression to advanced forms of SM.
  • Identifying specific gene mutations (like ASXL1, CBL, DNMT3A, etc.) alongside KIT D816V can help predict patient outcomes and identify those who may need closer monitoring and early treatment.
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