Frequent c-Kit gene mutations not only in gastrointestinal stromal tumors but also in interstitial cells of Cajal in surrounding normal mucosa

Differential expression of neural markers in KIT and PDGFRA wild-type gastrointestinal stromal tumours

“… 26 also reported that a fraction of GIST patients present a multiplicity of lesions harbouring KIT or PDGFRA mutations, with only one WT case observed, suggesting that widespread tumour precursor cells give rise to these tumours. Finally, distinct KIT mutations were also documented in microdissected ICCs of normal appearance in the muscularis propria that were localized close to GISTs 29 . Most of these studies concluded that the high frequency of KIT mutations observed both in sporadic or multifocal small GIST or ICC hyperplasias were because these mutations occur very early in tumorigenesis, and are required for GIST development.…”

KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs)

“…A recent study showed frequent KT mutations in ICCs from normal tissue surrounding gastric GISTs, whereas counterpart ICCs in gastric cancer harbored no such mutations. 37 This suggests that KIT-mutated ICCs represent precancerous cells; however, more studies should be done to confirm such a hypothesis.…”

Genetic aberrations of gastrointestinal stromal tumors

“…Ogasawara et al suggested that ICC undergoing KIT mutation as a possible early initiation step in GIST tumorigenesis may thus have preneoplastic potential 20. Agaimy et al also considered that GIST tumorlets represent the grossly recognizable counterpart of sporadic ICC hyperplasia caused by somatic KIT or PDGFRA mutations 21.…”