Hirota S, Isozaki K, Nishida T, Kitamura Y
Department of Pathology, Osaka University Medical School, Suita, Japan.
J Gastroenterol. 2000;35 Suppl 12:75-9.
Protooncogene c-kit encodes a receptor tyrosine kinase, KIT. Interstitial cells of Cajal (ICCs) that are important for the autonomous movement of the gastrointestinal tract essentially require the normal function of the KIT for their development. Therefore, germline loss-of-function mutations of the c-kit gene cause deficiency of ICCs that results in disturbed gastrointestinal movement. On the other hand, somatic gain-of-function mutations of the c-kit gene induce gastrointestinal stromal tumors (GIST) that are considered to originate from ICCs. Moreover, germline gain-of-function mutations of the c-kit gene are a cause of familial development of multiple GISTs.
原癌基因c-kit编码一种受体酪氨酸激酶KIT。对于胃肠道自主运动至关重要的 Cajal 间质细胞（ICC），其发育本质上需要KIT的正常功能。因此，c-kit基因的种系功能丧失突变会导致ICC缺乏，进而引起胃肠运动紊乱。另一方面，c-kit基因的体细胞功能获得性突变会诱发胃肠道间质瘤（GIST），这类肿瘤被认为起源于ICC。此外，c-kit基因的种系功能获得性突变是多发性GIST家族性发病的一个原因。
