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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、1 3和1 7外显子和P D G F R A基因1 2和1 8外显子突变情况。结果:G I ST肿瘤组织中c-K i t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PDGFR A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,PD GF R A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。
Objective: To investigate the mutations of c-Kit and PDGFRA subtypes in tumor tissue of patients with gastrointestinal stomal tumors (GIST). Methods: The mutations of exon 9, exon 11, exon 17 and exon 12 of PDGF in 65 GIST paraffin tissues were detected by direct sequencing. Results: The total mutation rate of cKit gene in GI ST tumor was 63.08% (41/65), the mutation rates of exon 9, 11, 13 and 17 were 23.08% (15/65) and 35.38% (23 / 65), 1.54% (1/65) and 3.08% (2/65) respectively. There were 2 cases (3.08%) of double mutations in exon of c-Kit gene, 1 case (1.54%), 1 case (1.54%) of 11 exon and 17 cases exon double mutation, 2 cases (3.08%) double mutation in c-Kit 11 exon and 1 case %). The total mutation rate of PDGFRA gene was 3.08% (2/65), all of which were exon 18 mutations. One case (1.54%) co-existed with c-Kit gene and PDGFRA gene double mutation was c-Kit 13 point V654L point mutation and PDGFR A gene 18 point D842V point mutation. CONCLUSIONS: There is a high mutation rate of c-Kit gene in GIST patients, especially for exon 9 and 11 mutation. The subtypes of gene mutation can guide tumor targeted therapy of imatinib in precision medicine. PD GF RA Gene mutation rate and the existence of two or more mutations occur at a low probability but can not be ignored.