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Kit Mutations: New Insights and Diagnostic Value.
Immunol Allergy Clin North Am 2018; 38(3):411-428IA

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.

Authors+Show Affiliations

Division of Hematology/Oncology, Columbia University Medical Center, 177 Fort Washington Avenue, MHB 6GN-435, New York, NY 10032, USA.Leukemia Department, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 428, Houston, TX 77030, USA. Electronic address: sverstov@mdanderson.org.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

30007460

Citation

Falchi, Lorenzo, and Srdan Verstovsek. "Kit Mutations: New Insights and Diagnostic Value." Immunology and Allergy Clinics of North America, vol. 38, no. 3, 2018, pp. 411-428.
Falchi L, Verstovsek S. Kit Mutations: New Insights and Diagnostic Value. Immunol Allergy Clin North Am. 2018;38(3):411-428.
Falchi, L., & Verstovsek, S. (2018). Kit Mutations: New Insights and Diagnostic Value. Immunology and Allergy Clinics of North America, 38(3), pp. 411-428. doi:10.1016/j.iac.2018.04.005.
Falchi L, Verstovsek S. Kit Mutations: New Insights and Diagnostic Value. Immunol Allergy Clin North Am. 2018;38(3):411-428. PubMed PMID: 30007460.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kit Mutations: New Insights and Diagnostic Value. AU - Falchi,Lorenzo, AU - Verstovsek,Srdan, Y1 - 2018/06/09/ PY - 2018/7/16/entrez PY - 2018/7/17/pubmed PY - 2019/1/29/medline KW - Avapritinib KW - Cutaneous mastocytosis KW - Imatinib KW - KIT D816V KW - KIT mutations KW - Midostaurin KW - Systemic mastocytosis SP - 411 EP - 428 JF - Immunology and allergy clinics of North America JO - Immunol Allergy Clin North Am VL - 38 IS - 3 N2 - 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. SN - 1557-8607 UR - https://www.unboundmedicine.com/medline/citation/30007460/Kit_Mutations:_New_Insights_and_Diagnostic_Value_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0889-8561(18)30031-6 DB - PRIME DP - Unbound Medicine ER -