胃肠间质瘤患者肿瘤组织中c-Kit基因和PDGFRA基因突变的分子病理检测分析
| 作者: |
1宋业颖,
1许春伟,
1吴永芳,
1邵云,
1张博,
1邰艳红,
1李晓兵
1 军事医学科学院附属医院病理科，北京 100071 |
| 通讯: |
宋业颖
Email: 1063239494@qq.com 许春伟 Email: xuchunweibbb@163.com 邰艳红 Email: taiyanhong29@163.com |
| DOI: | 10.3978/j.issn.2095-6959.2015.09.019 |
摘要
目的：探讨胃肠间质瘤(gastrointestinal stomal tumors，GIST)患者肿瘤组织中c-Kit和PDGFRA基因各亚型突变情况的研究。方法：应用直接测序方法检测65例GIST石蜡组织中c-Kit基因9、11、13和17外显子和PDGFRA基因12和18外显子突变情况。结果：GIST肿瘤组织中c-Kit基因总突变率为63.08%(41/65)，外显子9、11、13和17的突变率分别为23.08%(15/65)、35.38%(23/65)、1.54%(1/65)和3.08%(2/65)；c-Kit基因各外显子之间双重突变共2例(3.08%)，其中9外显子与11外显子双重突变1例(1.54%)，11外显子与17外显子双重突变1例(1.54%)；c-Kit基因11号外显子内双重突变2例(3.08%)，三重突变1例(1.54%)。PDGFRA基因总突变率为3.08%(2/65)，均为外显子18 突变。c-Kit基因和PDGFRA基因双突变共存型1例(1.54%)，为c-Kit基因13外显子V654L点突变和PDGFRA基因18外显子D842V点突变。结论：GIST患者中c-Kit基因存在较高的突变率，尤其为9和11外显子突变，其基因突变亚型分类能指导精准医学下伊马替尼的肿瘤靶向治疗，PDGFRA基因突变率和存在两种及其以上突变发生的发生概率虽低但不容忽视。
关键词：
直接测序
胃肠间质瘤
c-Kit基因
PDGFRA基因
突变率
The molecular pathology examination analysis of c-Kit and PDGFRA gene mutation in gastrointestinal stromal tumors
CorrespondingAuthor: SONG Yeying Email: 1063239494@qq.com
DOI: 10.3978/j.issn.2095-6959.2015.09.019
Abstract
Objective: To investigate the mutation subtypes of c-Kit gene and PDGFRA gene in gastrointestinal stromal tumors. Methods: Direct sequencing was used to test the tissues in 65 patients of gastrointestinal stromal tumors with paraffin tissue c-Kit gene and PDGFRA gene mutation. Results: The total mutation rate in exons 9, 11, 13 and 17 of c-Kit gene was 63.08% (41/65) in GIST. c-Kit gene mutation rate was found in exons 9 (23.08%, 15/65), 11 (35.38%, 23/65), 13 (1.54%, 1/65), and exon 17 (3.08%, 2/65) in the GIST. The total double mutation rate among every exon of c-Kit gene was 3.08% (2/65). One case (1.54%) was identified to have double c-Kit gene mutations between exons 9 and 11; one case (1.54%) was identified to have double c-Kit gene mutations between exons 11 and 17; two cases (3.08%) were identified to have double c-Kit gene mutations in exons 11, and one case (1.54%) was identified to have triple c-Kit gene mutations in exons 11; the total mutation rate PDGFRA gene was 3.08% (2/65) in GIST, and that was exons 18. One case of c-Kit gene and PDGFRA gene mutation coexist (1.54%), and that was c-Kit gene exons 13 V654L and PDGFRA gene exons 18 D842V. Conclusion: The mutation rate of c-Kit gene is high in GIST, and these mutations predominantly occur in exons 9 and 11. The subtypes mutation can guide the imatinib target for therapy in precision medical, and it can not be ignored that PDGFRA and two or more mutations.