[Characteristics of Clinicopathology and Genotype in 179 Cases with Gastrointestinal Stromal Tumor].
OBJECTIVE
To analyze the characteristics of the clinicopathology and genotypes in patients with gastrointestinal stromal tumor (GIST).


METHODS
The clinicopathological and genotypic data of 179 patients with GIST, who underwent treatment and genetic testing in the Hostital of West China from September 2009 to February 2009 were collected retrospectively.


RESULTS
The tumor sites of the cases were located in stomach (88 cases, 49.2%), small intestine (70 cases, 39.1%), colorectum (7 cases, 3.9%) and the other sites (14 cases, 7.8%) respectively. 94.4%, 74.9% and 93.3% of GIST patients were positive for CD117, CD34 and DOG-1 immunophenotypes respectively. C-kit and PDGFRα mutations were found in 151 cases (84.4%) and 8 cases (4.5%) except for the wild types of the rest 20 cases (11.2%). Among all the c-kit mutation, 92.2% mutation types in exon 11 were deletion mutation, point mutation and hybrid mutations, and in exon 9 the mutation types were just involving A502_Y503dup (n = 6) and Y403_F504ins (n = 14), while the mutation type were K642Q in exon 13 (n = 1) and N822K in 17 (n = 2). There were 6 patients with the mutation types of PDGFRα in exon 18, and 3 of them were type of D842V. In the GIST genotyping, DOG-1 positive rate in PDGFRα mutation patients were significantly lower than that in c-kit mutation and wild type patients (P = 0.007). In the various type of c-kit mutations, the positive rate of CD34 in point mutation patients were significantly lower than that in other mutation types (P < 0.001). The rate of high-risk patients in point mutation and insertion mutation patients were lower than that in deletion mutation and deletion + insertion mutation patients (P = 0.006).


CONCLUSIONS
The most common localizaions of GISTs are the stomach and small intestine. The most frequent mutation type of GIST is c-kit exon 11. The individualized treatment is required for GIST patients because its high mutation rate and types.
Jia-ju
JJ
Chen
Chao-yong
CY
Shen
Hui-jiao
HJ
Chen
Yuan
Y
Yin
Su-min
SM
Tang
Bo
B
Zhang
Zhi-xin
ZX
Chen
D002681:China; D005091:Exons; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000473:pathology*; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation; D016130:Immunophenotyping; D009154:Mutation; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics
D019009:Proto-Oncogene Proteins c-kit