Article
Improved diagnostic screening and classification of clonal mast cell diseases by ultrasensitive KIT p.D816V detection.
Blood - 27 Nov 2025
Navarro-Navarro Paula, González-Tablas María, Pérez-Pons Alba, Sánchez-Muñoz Laura, Henriques Ana, Álvarez-Twose Iván, Nafria Paula, Araco-Sánchez David, Morales-Cabeza Cristina, Caligaris Horacio, Chen Lei, González-de-Olano David, González-López Óscar, Escribano Luis, García-Montero Andrés C, Jara-Acevedo María, Orfao Alberto
Abstract excerpt
ABSTRACT: Detection of KIT p.D816V is a cornerstone in the diagnosis and classification of mast cell activation syndromes (MCAS) and mastocytosis. However, KIT p.D816V may be undetected due to a low mutated-cell burden in the blood and bone marrow (BM) of many patients, particularly those without skin lesions. These findings underscore the need for ultrasensitive molecular techniques for the detection of KIT...
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