KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies.
ASO-qPCR
KIT D816V mutation
Mast cells
Mastocytosis
Mutation burden
Tyrosine kinase inhibitors
ddPCR
Journal
Immunology and allergy clinics of North America
ISSN: 1557-8607
Titre abrégé: Immunol Allergy Clin North Am
Pays: United States
ID NLM: 8805635
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
medline:
23
10
2023
pubmed:
28
9
2023
entrez:
27
9
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37758404
pii: S0889-8561(23)00042-5
doi: 10.1016/j.iac.2023.04.008
pii:
doi:
Substances chimiques
Proto-Oncogene Proteins c-kit
EC 2.7.10.1
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
651-664Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.