论文部分内容阅读
目的探讨运用荧光原位杂交(FISH)与逆转录聚合酶链反应(RT-PCR)检测尤文肉瘤/原始神经外胚层肿瘤(ES/PNET)石蜡包埋组织特异性染色体易位的临床应用价值。方法收集ES/PNET10例,分离石蜡包埋组织中的肿瘤细胞,利用Vysis公司的EWSR1双色易位分离探针,间期核FISH检测EWS基因的易位。运用RT-PCR检测t(11;22)(q24;q12)和t(21;22)(q22;q12)形成的融合转录子EWS-FLI1和EWS-ERG。结果10例ES/PNET中FISH观察9例有EWS基因的易位。RT-PCR8例检测出EWS-FLI1的表达,没有检测出EWS-ERG的表达。结论利用FISH与RT-PCR检测ES/PNET石蜡包埋组织特异性染色体易位可作为可靠的分子诊断指标;两者相比,FISH敏感性和稳定性要优于RT-PCR。
Objective To investigate the clinical value of fluorescence in situ hybridization (FISH) and reverse transcriptase polymerase chain reaction (RT-PCR) in detecting the tissue-specific chromosomal translocations of Ewing’s sarcoma / primitive neuroectodermal tumor (ES / PNET). Methods ES / PNET was collected in 10 cases. Tumor cells in paraffin-embedded tissue were isolated. Vysis EWSR1 double chromogenic translocation probe was used to detect the translocation of EWS gene by interphase nuclear FISH. The fusion transcripts EWS-FLI1 and EWS-ERG formed at t (11; 22) (q24; q12) and t (21; 22) (q22; q12) were detected by RT-PCR. Results In 10 cases of ES / PNET, FISH was observed in 9 cases of EWS gene translocation. The expression of EWS-FLI1 was detected by RT-PCR in 8 cases, and the expression of EWS-ERG was not detected. Conclusion FISH and RT-PCR detection of ES / PNET paraffin-embedded tissue-specific chromosomal translocations can be used as reliable molecular diagnostic indicators; compared with the two, FISH sensitivity and stability than RT-PCR.