KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes
21st March 2025
Paula Navarro-Navarro, Iván Álvarez-Twose, Alba Pérez-Pons, Ana Henriques, Andrea Mayado, Andrés C. García-Montero, Laura Sánchez-Muñoz, Oscar González-López, Almudena Matito, Carolina Caldas, María Jara-Acevedo, Alberto Orfao (2022). This article discusses the potential utility of investigating KITD816V in genomic DNA to increase diagnostic sensitivity for MCAS. It states that, while KITD816V is a key marker for systemic mastocytosis, it is less detectable in blood for patients with low levels of the mutation, such as patients with c-MCAS. It suggests that tracking the KITD816V mutation over time could help identify patients at higher risk of disease progression.
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