Kit Mutations: New Insights and Diagnostic Value

Immunology and Allergy Clinics of North America
Lorenzo Falchi, Srdan Verstovsek

Abstract

Mastocytosis is a World Health Organization-defined clonal mast cell disorder characterized by significant clinicopathologic heterogeneity. Despite this diversity, a mutation of the KIT gene, most commonly D816V, is found in almost all cases and believed a driver lesion. Peripheral blood allele-specific oligonucleotide polymerase chain reaction can reliably detect KIT D816V and is used for the initial screening of adults with suspected systemic mastocytosis. The discovery of KIT mutations as central to the pathobiology of mastocytosis has prompted development of KIT-targeted agents, including imatinib and midostaurin (approved medications for patients with advanced systemic mastocytosis), and drugs in development, like KIT D816V-specific inhibitor avapritinib.

Citations

Mar 9, 2019·Hematological Oncology·Federica Irene GrifoniLuca Baldini
Dec 15, 2020·American Journal of Clinical Pathology·Alexandar TzankovTracy I George
Jul 28, 2020·La Revue de médecine interne·H LobbesS Durupt
Oct 13, 2021·Histopathology·Philippe DrabentSylvie Fraitag

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