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[Expression and mutation of c-kit gene in gastrointestinal stromal tumor]
Dalie Ma1, Xiaohong Liu, Zailong Cai
1Department of Pathology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China.
Objective:
To investigate the effect of the expression and mutation of c-kit gene and its relationship with clinical pathology and prognosis of gastrointestinal stromal tumor (GIST).
Methods:
Immunohistochemical and PCR-SSCP techniques were used to detect c-kit protein expression and c-kit gene exon 11 mutation in 82 patients with GIST.
Results:
The positive c-kit protein expression and c-kit gene mutation rates were 97.6% (80/82) and 41.5% (34/82). Correlating the results of these two methods and clinicopathological factors, the c-kit expression and c-kit gene mutation rates were 95.0% (19/20) and 0 in benign GIST, and were 98.4% (61/62), 54.8% (34/62) in malignant GIST. Mutation positive GIST showed higher frequency of adjacent tissue invasion, metastasis and recurrence as compared with mutation negative ones.
Conclusion:
c-kit protein is an important diagnostic marker of gastrointestinal stromal tumor. c-kit gene mutation may play a significant role in the pathogenesis of GIST and also may be a prognostic marker.