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.

• Authors: Yannick Chantran, Peter Valent, Michel Arock
• Journal: Immunology and allergy clinics of North America (Immunol Allergy Clin North Am) Vol. 43 Issue 4 Pg. 651-664 (11 2023) ISSN: 1557-8607 [Electronic] United States
• PMID: 37758404 (Publication Type: Journal Article, Review, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2023 Elsevier Inc. All rights reserved.

Chemical References

• Proto-Oncogene Proteins c-kit

Topics

• Humans
• Proto-Oncogene Proteins c-kit (genetics)
• Mastocytosis (diagnosis, genetics, therapy)
• Mutation
• Mastocytosis, Systemic (diagnosis, drug therapy, genetics)
• Bone Marrow
• Mast Cells