免疫组化和直接测序以及焦磷酸测序对IDH1突变的比较研究

Comparative study of IDH1 mutation by immunohistochemistry, direct sequencing and pyrophosphatic acid sequencing

采用免疫组化法、直接测序法、焦磷酸测序法分别对弥漫性脑胶质瘤患者异柠檬酸脱氢酶1(IDH1)第132位精氨酸的突变进行检测.结果表明:3种方法对高频突变的检出一致性为90.62%,免疫组化只能检测出R132H突变类型,而两种测序方法都能检测出R132-其他类型的突变;焦磷酸测序检出灵敏度最高达3%,直接测序法最经济和简便,但灵敏度低,仅能检测突变率为20%以上的突变.建议先用免疫组化和直接测序初筛IDH1基因突变,对发现的低频突变用焦磷酸测序验证.

Mutations in 132 arginine of isocitrate dehydrogenase 1 (IDH1) in diffuse glioma patients are detected by immunohistochemistry, direct sequencing and pyrophosphate sequencing respectively. The results show that the consistency of the three methods is 90.62%. Immunohistochemistry can only detect the mutation type of R132H, and both sequencing methods can detect the mutation of R132-other types. The sensitivity of pyrophosphate sequencing is up to 3%. Direct sequencing is the most economical and simple method, but its sensitivity is low, which can only detect mutations with mutation rate of more than 20%. It is suggested that IDH1 gene mutation should be screened by immunohistochemistry and direct sequencing, and low frequency mutation should be verified by pyrophosphate sequencing.