Published: 25 July 2023
Author(s): Simone Marcella, Angelica Petraroli, Luisa Canè, Anne Lise Ferrara, Remo Poto, Roberta Parente, Francesco Palestra, Leonardo Cristinziano, Luca Modestino, Maria Rosaria Galdiero, Maria Monti, Gianni Marone, Massimo Triggiani, Gilda Varricchi, Stefania Loffredo
Section: Original article

Mastocytosis is a heterogeneous, rare disease associated with uncontrolled proliferation, accumulation, and increased survival of mast cells (MCs) in different organs [1]. This pathological condition is related to gain-of-function pathogenic variants of the c-kit gene that encodes for KIT (CD117), a transmembrane tyrosine kinase receptor largely expressed on MC surface [2,3]. These variants lead to autophosphorylation of the KIT receptor causing spontaneous MC proliferation also in absence of the KIT ligand, stem cell factor (SCF) [3,4].

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