KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies - Sorbonne Université Access content directly
Journal Articles Immunology and Allergy Clinics of North America Year : 2023

KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies

Abstract

A KIT activating mutation (usually KIT D816V) is detected in neoplastic cells in greater than 90% of indolent patients with systemic mastocytosis (SM). In more advanced variants of SM, additional genetic defects can be found in several myeloid malignancy-related genes, which can be detected by applying next-generation sequencing. Currently, the techniques recommended to detect the KIT D816V mutation and quantify the mutational burden in peripheral blood, bone marrow, or other organs/tissues are allele specific-quantitative PCR or droplet digital PCR. These techniques are useful for diagnosis, prognostication, follow-up and monitoring of therapeutic efficacy of cytoreductive agents in patients with SM.
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Dates and versions

hal-04223278 , version 1 (11-12-2023)

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Yannick Chantran, Peter Valent, Michel Arock. KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies. Immunology and Allergy Clinics of North America, 2023, 43 (4), pp.651-664. ⟨10.1016/j.iac.2023.04.008⟩. ⟨hal-04223278⟩
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