老年人胃肠道间质瘤的c-kit和PDGFRa基因突变检测

Detection of c-kit and PDGFRa gene mutation in gastrointestinal stromal tumors in elderly

目的研究老年人胃肠道间质瘤(gastrointestinal stromal tumors,GIST) c-kit和PDGFRa基因突变及其临床病理学意义。方法采用免疫组织化学技术并结合PCR扩增和测序技术,检测医院病理科2005-01至2017-12存档的老年GIST患者标本共79例,统计并分析免疫表型特征及c-kit和PDGFRa基因突变情况。结果 79例老年GIST患者,高发年龄为65～75岁,c-kit基因突变率为88. 6%(70/79),PDGFRa基因突变率为8. 9%(7/79),野生型GIST2. 5%(2/79);其中c-kit基因11号外显子突变为最常见,占83. 5%(65/77)。结论多数老年人GIST患者携有特征性c-kit/PDGFRa基因突变,为GIST的确诊和生物靶向治疗提供了重要依据。

Objective To investigate the gene mutation of c-kit and PDGFRa in gastrointestinal stromal tumors( GIST).Methods Immunohistochemistry,PCR amplification and sequencing were used to detect immunophenotypic characteristics and mutations of c-kit and PDGFRa genes of 79 cases of gastrointestinal stromal tumors which were documented in the Department of Pathology of our hospital between January 2005 and December 2017. Results In this study,most of the elderly patients with GIST ranged 65 to75 in age. c-kit and/or PDGFRa gene mutations were detected in 77/79 cases,including c-kit mutation( 70 cases,88. 6%),PDGFRa mutation( 7 cases,8. 9%) and wild type( 2 cases,2. 5%). Exon 11 mutation of c-kit genes was the most common( 65/77,82. 3%). Conclusions Most of the aged patients with GIST typically carry c-kit and/or PDGFRa gene mutations,which provides molecular evidence for confirmation of the diagnosis and for targeted therapies.