Kit Mutations: New Insights and Diagnostic Value.
Immunol Allergy Clin North Am
; 38(3): 411-428, 2018 08.
Article
em En
| MEDLINE
| ID: mdl-30007460
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.
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Base de dados:
MEDLINE
Assunto principal:
Pele
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Proteínas Proto-Oncogênicas c-kit
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Mastocitose Cutânea
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Mastocitose Sistêmica
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Inibidores de Proteínas Quinases
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Mastócitos
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Mutação
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article