IP: Dr. Andrés C. García Montero

Resumen del proyecto: D816V activating c-kit mutation is present in the majority of Systemic Mastocytosis (SM) patients independently of their severity. Secondary genetic alterations are thought to be caused of the aggressive cases. Despite the presence of this mutation in an early stem cell is associated with the most aggressive SM cases, its detection is not possible in every clinical laboratory of the Spanish National Health System because of methodological reasons. Objective: to identify a “molecular signature” to design new (molecular and immunophenotypical) methodologies that could be used in any clinical laboratory to define the incidence of KIT mutations and the infiltration of the clonal hematopoyesis of SM patients with the aim of predicting the progression of the disease. Patients will be diagnosed and directly controlled by the Spanish network on mastocytosis (REMA). Methodology: Molecular analysis of KIT mutations in peripheral blood of patients previously diagnosed of KIT mutations (i.e. D816V) in mast cells and other bone marrow cell populations (including CD34+ stem cells and mesenchimal cells) purified by FACSAria flow cytometer. Analysis of the correlation between molecular events along with the associated clinical and environmental features will allow us to establish specific prognostic criteria

Entidad financiadora: Junta de Castilla y León