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目的检测胃肠道间质瘤(gastrointestinal stromal tumors,GIST)患者中酪氨酸激酶受体基因C-kit及血小板源性生长因子受体A(platelet derived growth factor receptor A,PDGFRA)基因突变情况,探讨其与GIST发病的相关性。方法从武汉大学人民医院及武汉大学中南医院收集的102例GIST患者石蜡肿瘤切片样本中提取DNA,采用PCR技术扩增特异性目的片段,并直接进行序列测定,分析样本中C-kit及PDGFRA基因突变情况。结果在102份石蜡肿瘤切片样本中共检出C-kit基因突变76例,其中大多数突变发生于第11号外显子上,共65例,包括缺失突变43例,占66.15%(43/65),点突变12例,占18.46%(12/65),插入突变4例,占6.15%(4/65),点突变伴随缺失突变6例,占9.23%(6/65);7例样本存在第9号外显子突变;3例样本存在第13号外显子突变;2例样本检测出第17号外显子突变。共检出PDGFRA基因突变4例,其中第12号外显子突变的有3例,第18号外显子突变仅检出1例。结论大多数GIST患者中存在C-kit基因的突变,且主要突变位置在第11号外显子;PDGFRA基因突变存在于C-kit未突变患者中。
Objective To detect the mutation of tyrosine kinase receptor C-kit and platelet derived growth factor receptor A (PDGFRA) in patients with gastrointestinal stromal tumors (GIST) To explore its correlation with the incidence of GIST. Methods DNA was extracted from paraffin-embedded sections of 102 patients with GIST collected from People’s Hospital of Wuhan University and Zhongnan Hospital of Wuhan University. The specific fragments were amplified by PCR and sequenced directly. The C-kit and PDGFRA genes Mutation situation. Results A total of 76 C-kit mutations were detected in 102 paraffin-embedded tumor samples. Most of the mutations occurred in exon 11, including 65 cases (43 cases), including 43 cases (43%) with deletion mutation , Point mutation in 12 cases, accounting for 18.46% (12/65), insertion mutation in 4 cases, accounting for 6.15% (4/65), point mutation accompanied by deletion mutation in 6 cases, accounting for 9.23% (6/65) Exon 9 mutations; exon 13 mutations were present in 3 samples; exon 17 mutations were detected in 2 samples. A total of 4 cases of PDGFRA gene mutations were detected, of which 12 cases were exon 12 mutations and only 18 cases were exon 18 mutations. Conclusions Most GIST patients have a C-kit mutation and the major mutation is located on exon 11. PDGFRA mutations are present in C-kit non-mutated patients.