【摘要】 目的讨论软组织肉瘤(STS)中C-KIT,PDGFRα基因的突变情况。方法直接测序分析32例石蜡STS组织中C-KIT的突变(9,11,17外显子)和PDGFRα(12,18外显子)的突变情况。以10例胃腺癌作为对照。结果 C-KIT基因的突变率为37.5%(12/32),突变位点主要在第11外显子。PDGFRα基因未发现有活性的突变,但其中16例在12外显子第567位密码子(P567P)、4例在18外显子第824位密码子(V824V)发现同义突变。结论约三分之一的STS发生C-KIT突变,C-KIT可能是酪氨酸激酶抑制剂(TKI)在STS中一个潜在的治疗靶点。更多还原

【Abstract】 Objective To investigate the mutation status of C-KIT and PDGFRα in 32 Chinese clinical samples with soft tissue sarcoma(STS). Methods Genomic DNA was isolated from 32 cases of paraffin-embedded STS and presence of C-KIT(exon 9,11, 17) mutation and PDGFRα(exon 12,18) mutation were analyzed by direct sequencing. 10 cases of gastric adenocarcinoma were used as control. Results The mutation rate for C-KIT was 37.5%(12/32). Among them, 7 in 12 examined cases had C-KIT mutations in exon 11. No activating PDGFR α mutations were found, but two silent mutations were observed, base substitution in exon 12(CCA>CCG) at codon 567(P567P) in 16 cases and in exon 18(GTC>GTT) at codon 824(V824V) in 4 cases. Conclusion C-KIT mutations occur in approximately one-third of cases of STS and may be a potential therapeutic target for STS.更多还原