gastrointestinal stromal tumor of the ckit gene mutation detection（胃肠道间质肿瘤的ckit基因突变检测）.docVIP

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gastrointestinal stromal tumor of the ckit gene mutation detection（胃肠道间质肿瘤的ckit基因突变检测）.doc

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gastrointestinal stromal tumor of the ckit gene mutation detection（胃肠道间质肿瘤的ckit基因突变检测）

Gastrointestinal stromal tumor of the ckit gene mutation detection Author: Yang Feng Ding Baoguo Young Church bucket He Huiying Zhong Gao Gao Li Yan Zheng Jie WU Bing Quan [Abstract] Objective To study the CD117-positive gastrointestinal stromal tumor (GISTc kit gene mutation distribution and type. Method using immunohistochemical techniques, line of CD117, CD34 and SMA and S 100 detected 10 cases of GIST specimens, diagnosed as GIST by PCR in CD117 positive GIST, c kit in gene mutation detection using direct sequencing methods for sequence analysis for mutations in c kit gene 11,9,13 and 17 mutations in exon four cases were successfully extracted tumor DNA three cases detected c kit in gene mutations, are located in the 11th exon, are 557 ~ 558 (WK deletion mutations, including two cases of homozygous resistance mutations, 1 case of heterozygosity mutations. Conclusion CD117 positive GIST usually c kit in gene mutation, its 11 outside exon is a classic distribution of hot variant homozygous and heterozygous mutations in the common type. [Keywords: gastrointestinal stromal tumor; DNA mutation analysis, and c kit gene [ABSTRACT] ObjectiveTo explore the locus and types of c kit (CD117) mutations in gastrointestinal stromal tumors (GIST). MethodsSpecimens of 10 GIST cases were detected immunohistologically for CD117, CD34, SMA and S 100 to confirm the diagnosis of GIST. For CD117 positive GIST, the mutation of c kit was detected by PCR, and its exons 11, 9, 13 and 17 analyzed by direct sequencing technique.ResultsDNA was successfully isolated in four cases, in which, mutation of c kit was found in three cases, all the genes detected were at c kit exon 11 with codon 557-558 (WK), homozygous mutation being noted in two cases and heterozygous in one.ConclusionThere is usually c kit gene mutations in CD117 positive GIST, the exon 11 being classic “hot spot “of the mutations. The homozygous and heterozygous are their common types. [KEY WORDS] Gastroint