title: Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.
abstract: Somatic mutations of KIT are frequently found in mastocytosis and gastrointestinal stromal tumor (GIST), while germline mutations of KIT are rare, and only found in few cases of familial GIST and mastocytosis. Although ligand-independent activation is the common feature of KIT mutations, the phenotypes mediated by various germline KIT mutations are different. Germline KIT mutations affect different tissues such as interstitial cells of Cajal (ICC), mast cells or melanocytes, and thereby lead to GIST, mastocytosis, or abnormal pigmentation. In this review, we summarize germline KIT mutations in familial mastocytosis and GIST and discuss the possible cellular context dependent transforming activity of KIT mutations.
authors: Department of Pathogen Biology and Immunology, School of Basic Medical Sciences, Ningxia Medical University, No. 1160 Shengli Street, Yinchuan, 750004 People's Republic of China ; Translational Cancer Lab, General Hospital of Ningxia Medical University, Yinchuan, People's Republic of China.
authors: Hengning
authors: H
authors: Ke
authors: Division of Translational Cancer Research, Lund Stem Cell Center, Department of Laboratory Medicine, Lund University, Lund, Sweden.
authors: Julhash U
authors: JU
authors: Kazi
authors: Faculty of Medicine, School of Biomedical Sciences, The Chinese University of Hong Kong, Sha Tin, Hong Kong, People's Republic of China.
authors: Hui
authors: H
authors: Zhao
authors: Department of Pathogen Biology and Immunology, School of Basic Medical Sciences, Ningxia Medical University, No. 1160 Shengli Street, Yinchuan, 750004 People's Republic of China ; Division of Translational Cancer Research, Lund Stem Cell Center, Department of Laboratory Medicine, Lund University, Lund, Sweden.
authors: Jianmin
authors: J
authors: Sun
keywords: Cancer; KIT; Signal transduction; Targeted therapy