Mastocytosis is a group of rare and heterogeneous diseases. They are characterized by an increased accumulation of abnormal mast cells in various organs/tissues.
The pathogenesis of mastocytosis is linked to the presence of KIT-activating mutations.
In systemic mastocytosis (SM), the most frequent mutation is KIT p.D816V. The presence of KIT p.D816V is one of the minor diagnostic criteria for systemic mastocytosis (SM).
Allele-specific quantitative PCR and droplet digital PCR are the most sensitive lab tests for KIT p.D816V.
KIT p.D816V multilineage involvement is associated with a worse prognosis.
Mutations in genes other than KIT are frequently identified in systemic mastocytosis (SM). Those mutations have a negative prognosis.
More details in the JACI-IP article below:
https://www.jaci-inpractice.org/article/S2213-2198(22)00239-2/fulltext
Genetic Testing in the Diagnosis and Prognostication of Systemic Mastocytosis
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