Kit Mutations New Insights and Diagnostic Value

被引：14

作者：

Falchi, Lorenzo ^{[1
]}

Verstovsek, Srdan ^{[2
]}

机构：

[1] Columbia Univ, Div Hematol Oncol, Med Ctr, 177 Ft Washington Ave,MHB 6GN-435, New York, NY 10032 USA

[2] Univ Texas MD Anderson Canc Ctr, Leukemia Dept, 1515 Holcombe Blvd,Unit 428, Houston, TX 77030 USA

来源：

IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA | 2018年 / 38卷 / 03期

关键词：

KIT mutations; KIT D816V; Cutaneous mastocytosis; Systemic mastocytosis; Imatinib; Midostaurin; Avapritinib; ACUTE MYELOID-LEUKEMIA; PROTOONCOGENE C-KIT; MAST-CELL DISORDERS; TYROSINE KINASE INHIBITOR; POLYMERASE-CHAIN-REACTION; SYSTEMIC MASTOCYTOSIS SM; D816V MUTATION; CUTANEOUS MASTOCYTOSIS; IMATINIB MESYLATE; WILD-TYPE;

D O I：

10.1016/j.iac.2018.04.005

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

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 to be 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, such as KIT D816V-specific inhibitor avapritinib.

引用

页码：411 / +

页数：19

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