| Affiliation: | 1.Department of Pathogen Biology and Immunology, School of Basic Medical Sciences,Ningxia Medical University,Yinchuan,People’s Republic of China;2.Translational Cancer Lab,General Hospital of Ningxia Medical University,Yinchuan,People’s Republic of China;3.Division of Translational Cancer Research, Lund Stem Cell Center, Department of Laboratory Medicine,Lund University,Lund,Sweden;4.Faculty of Medicine, School of Biomedical Sciences,The Chinese University of Hong Kong,Hong Kong,People’s Republic of China |
| 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. |
