应用FISH技术检测嗜酸性粒细胞增多症PDGFRA基因异常表达

Detecting the Abnormal Expression of PDGFRA Gene in Eosinophilia by FISH

本研究通过荧光原位杂交(FISH)检测,观察PDGFRA基因在嗜酸性粒细胞增多症中的异常表达情况。应用FISH技术和4q12三色重排探针,检测13例嗜酸性粒细胞增多患者PDGFRA基因的重排形式,同时选择15例正常对照用于确定4q12探针异常荧光信号的正常阈值。结果表明:13例患者中有1例纠正诊断为慢性粒细胞白血病,其余12例中有2例检出FIP1L1-PDGFRA(F/P)融合基因,检出率为17%,但本研究未发现累及PDGFRA基因的其他易位形式。结论:利用4q12三色探针的FISH检测可同时观察PDGFRA基因的多种易位情况,为嗜酸性粒细胞增多症的诊断以及治疗方案的选择提供重要信息。

This study was aimed to investigate the abnormal expression of PDGFRA gene in eosinophilia by FISH.Translocations of PDGFRA gene in 13 patients with eosinophilia were detected by using 4q12 three-color probe and FISH technology.Fifteen people were used as control to establish the normal cut-off value of fluorescence signal of PDGFRA.The results indicated that 1 out of 13 patients with eosinophilia was corrected and was diagnosed as CML.The fusion gene of FIP1L1-PDGFRA（F/P） was found in 2 patients and the positive rate of F/P fusion gene detected by probe 4q12 was 17% in the 12 patients with eosinophilia.Other translocation forms involving PDGFRA gene were not found.It is concluded that a variety of translocation forms of PDGFRA gene can be detected in patients with eosinophilia by using 4q12 three-color probe and FISH technology,which can provide important information for assessing diagnosis and treatment.