应用FISH技术检测嗜酸性粒细胞增多症PDGFRA基因异常表达

本研究通过荧光原位杂交（HSH）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HSH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HSH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.

Detecting the Abnormal Expression of PDGFRA Gene in Eosinophilia by FISH

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.