Molecular Defects in Mastocytosis KIT and Beyond KIT

被引：65
作者：
Bibi, Siham [1 ]
Langenfeld, Florent [1 ]
Jeanningros, Sylvie [1 ]
Brenet, Fabienne [2 ,3 ,4 ,5 ]
Soucie, Erinn [2 ,3 ,4 ,5 ]
Hermine, Olivier [6 ,7 ,8 ]
Damaj, Gandhi [8 ,9 ]
Dubreuil, Patrice [2 ,3 ,4 ,5 ,8 ]
Arock, Michel [1 ]
机构：
[1] Ecole Normale Super, LBPA CNRS UMR8113, F-94235 Cachan, France
[2] Inserm U1068, CRCM, F-13009 Marseille, France
[3] Inst Paoli Calmettes, F-13009 Marseille, France
[4] Aix Marseille Univ, UM 105, F-13284 Marseille, France
[5] CNRS, CRCM, UMR7258, F-13009 Marseille, France
[6] Paris Descartes Univ, Fac Med, Dept Clin Hematol, F-75006 Paris, France
[7] Paris Descartes Univ, AP HP Necker Enfants Malades, F-75006 Paris, France
[8] Mastocytosis Reference Ctr, AP HP Necker Enfants Malades, Fac Med, F-75743 Paris 15, France
[9] CHU Amiens, Hop Sud, Dept Clin Hematol, F-80054 Amiens, France
来源：
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA | 2014年 / 34卷 / 02期
关键词：
Systemic mastocytosis; KIT; Mutation; Signaling; TET2; ASXL1; Spliceosome; Targeted therapy; STEM-CELL FACTOR; HUMAN MAST-CELL; AGGRESSIVE SYSTEMIC MASTOCYTOSIS; LIGAND-INDEPENDENT ACTIVATION; RECEPTOR TYROSINE KINASE; PROTOONCOGENE C-KIT; GROWTH-FACTOR; PEDIATRIC MASTOCYTOSIS; CUTANEOUS MASTOCYTOSIS; COMPETENCE NETWORK;
D O I：
10.1016/j.iac.2014.01.009
中图分类号：
R392 [医学免疫学];
学科分类号：
100102 ;
摘要：
In all variants of mastocytosis, activating KIT mutations are frequently found. In adults, neoplastic mast cells (MCs) cells show the KIT mutation D816V, whereas in children, MCs invading the skin are frequently positive for non-KIT D816V mutations. The clinical course and prognosis of the disease vary among patients With systemic mastocytosis (SM). Additional KIT-independent molecular defects might cause progression. Additional oncogenic lesions have recently been identified in advanced SM. In advanced SM the presence of additional genetic lesions or altered signaling worsening the prognosis might lead to the use of alternative therapies such as combined antisignaling targeted treatments or stem cell transplantation.
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页码：239 / +
页数：26
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