荧光原位杂交技术检测融合基因对前列腺癌的诊断价值

Diagnostic Value of Fusion Gene Detected by Fluorescence in Situ Hybridization for Prostate Cancer

目的：探讨荧光原位杂交技术（ FISH）检测跨膜丝氨酸蛋白酶2基因（ TMPRSS2）和成红细胞特异性转化基因（ETS）家族[ETS相关基因（ERG）、ETS变异体1（ETV1）及ETS变异体4（ETV4）]的融合基因对前列腺癌的诊断价值。方法收集前列腺癌44例及良性前列腺疾病20例的病理标本，应用3组FISH探针分别检测TMPRSS2/ERG、TMPRSS2/ETV1及TMPRSS2/ETV4融合基因，并与病理诊断结果比较。结果前列腺癌组患者TMPRSS2/ERG、TMPRSS2/ETV1、TMPRSS2/ETV4融合基因阳性率分别为59．1％、9．1％、2．3％，总体阳性率为70．5％（31/44）。与病理诊断相比，FISH诊断前列腺癌敏感度为70．5％（31/44），特异度为100．0％（20/20）。前列腺特异性抗原（PSA）＜10 ng/ml、PSA 10～20 ng/ml、PSA＞20 ng/ml患者TMPRSS2/ERG探针阳性率比较，差异无统计学意义（P＞0．05）。 TMPRSS2/ERG 融合基因阳性与血清PSA 水平无明显相关性（P ＞0．05）。结论 FISH 检测TMPRSS2/ETS（ ERG、ETV1、ETV4）融合基因诊断前列腺癌具有较高价值。

Objective To explore the diagnostic value of transmembrane serine protease gene 2（TMPRSS2） and erythroblast transformation-specific（ETS） fusion gene[EST-related gene（ERG）,EST variant gene 1（ETV1）,EST variant gene 4（ETV4）] detected by fluorescence in situ hybridization （FISH） for prostate cancer.Methods The specimens from 44 cases of prostate cancer tissue and 20 cases of benign prostate hyperplasia （ BPH） tissue were collected .TMPRSS2/ERG, TMPRSS2/ETV1 and TMPRSS2/ETV4 fusion genes in specimens were detected by using three different FISH probes ,and the results were compared with the results of pathological diagnosis .Results The overall positive rate of FISH was 70.5%（31/44）,the positive rates of TMPRSS2/ERG,TMPRSS2/ETV1 and TMPRSS2/ETV4 in prostate cancer patients were 59.1%,9.1%,2.3%,respectively.Compared with the results of pathological diagnosis ,the sensitivity of FISH for diagnosis of prostate cancer was 70.5%（31/44）,and the specificity was 100%（20/20）.There was no significant difference in the positive rate of FISH using TMPRSS2/ERG probe in patients with prostate specific antigen（PSA）〈10 ng/ml,PSA ranged from 10 ng/ml to 20 ng/ml,or PSA〉20 ng/ml（P〉0.05）.There was no significant correlation between serum level of PSA and positive TMPRSS2-ERG fusion（P〉0.05）.Conclusion TMPRSS2-ETS fusion gene（ERG,ETV1,ETV4） detected by FISH for diagnosis of prostate cancer is of great value .