Genetic Testing in the Diagnosis and Prognostication of Systemic Mastocytosis

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