Expression and mutation of c-kit gene in gastrointestinal stromal tumors.
OBJECTIVE
To investigate the expression and mutation of c-kit gene and its correlation with the clinical pathology and prognosis of gastrointestinal stromal tumors (GISTs).


METHODS
A total of 94 cases of GISTs, 10 leiomyomas and 2 schwannomas were studied for the expression of KIT by immunohistochemistry. The c-kit gene mutations in exon 11 of these specimens were detected by PCR-SSCP technique.


RESULTS
Of the 94 cases of GISTs, 91 (96.8%) expressed the KIT protein. Leiomyomas and schwannomas were negative for KIT. The c-kit gene mutations of exon 11 were found in 38 out of the 94 cases of GISTs (40.4%). The mutations involved point mutations (Val560-Asp, Ile563-Met), del 557-559 and 579ins12. No mutations were detectable in benign GISTs, leiomyomas or schwannomas. The patients with mutation-positive GISTs showed more frequent recurrences, invasion and metastasis in adjacent tissues than those with mutation-negative ones.


CONCLUSIONS
KIT is a useful marker for diagnosis of GISTs. Mutation of the c-kit gene may play a significant role in the pathogenesis of GISTs and may be associated with poor prognosis in patients with GISTs.
Feng
Fei
F
Department of Pathology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China.
Liu
Xiao-Hong
XH
Xie
Qiang
Q
Liu
Wei-Qiang
WQ
Bai
Cheng-Guang
CG
Ma
Da-Lie
DL
D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D007150:Immunohistochemistry; D007889:Leiomyoma / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009442:Neurilemmoma / Q000473:pathology / Q000503:physiopathology*; D017354:Point Mutation; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D014408:Biomarkers, Tumor; D019009:Proto-Oncogene Proteins c-kit