软组织肉瘤中C-KIT,PDGFRα基因突变的检测结果分析

Detection of C-KIT and PDGFRα mutation in non-GIST soft tissue sarcoma

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。

Objective To investigate the mutation status of C-KIT and PDGFR~ in 32 Chinese clinical sam- ples with soft tissue sarcoma （STS）. Methods Gcnomic DNA was isolated from 32 cases of para^n-embedded STS and presence of C-KIT （exon 9, 1 I, 17） mutation and PDGFRct （exon 12, 18） mutation were analyzed by direct se- quencing. 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 PDGFRct 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. Condusion C-KIT mutations occur in ap- proximately one-third of cases of STS and may be a potential therapeutic target for STS.