MassArray技术在肿瘤组织突变检测中的应用研究

Studies of Gene Mutations in Tumors By Using MassArray System

目的:初步探讨MassArray技术在肿瘤组织基因突变检测中的应用及意义。方法:采用MassArray技术检测3例软组织肉瘤(滑膜肉瘤、透明细胞肉瘤和副结节神经瘤各1例)组织中19个常见癌基因238个突变位点的突变情况。结果:3例样本中发现1例滑膜肉瘤存在PIK3CAE542K突变,统计学显示该突变与肿瘤是否染色体易位及肿瘤的生存预后无显著性差异。结论:MassArray技术是一种检测肿瘤组织中基因突变的有效方法,且首次在滑膜肉瘤中报道了PIK3CAE542K突变。

Objective： To investigate and discuss the application of MassArray system in tumors. Methods ：238 com- mon hot-spot cancer mutations in 19 oncogenes were detected in 3 soft tissue sarcomas by using MassArray system platform and OncoCarta Panel. Results：l mutation Of E542K was identified in gene PIK3CA in 1 synovial sarcoma sample. Tbere$ no significant difference between PIK3CA mutation and the chromosomal translocation of tumors. Conclusion：This stusy de- scribes MassArray system is effective to detect gene mutations in tumors. In addition, the mutation PIK3CAF542K is the first report in synovial sarcomas up to now.