横纹肌肉瘤中PAX3-FKHR和PAX7-FKHR融合基因的表达

Detection of PAX3/PAX7-FKHR fusion transcript in rhabdomyosarcoma by one-step RT-PCR

目的 运用逆转录聚合酶链反应 (RT PCR)技术检测石蜡包埋横纹肌肉瘤中PAX3 FKHR和PAX7 FKHR融合基因mRNA的表达并探讨其在横纹肌肉瘤病理诊断中的价值。方法 用一步法RT PCR技术对 15例石蜡包埋横纹肌肉瘤和 15例非横纹肌源性小圆细胞肿瘤 (对照组 )的PAX3 FKHR和PAX7 FKHR融合基因mRNA的表达进行了检测。结果 6例腺泡型横纹肌肉瘤中4例有PAX3 FKHR或PAX7 FKHR融合基因mRNA的表达 (3例表达PAX3 FKHR融合基因 ,1例表达PAX7 FKHR融合基因 ) ,8例胚胎型横纹肌肉瘤、1例多形型横纹肌肉瘤及 15例对照组肿瘤组织中无PAX3 FKHR和PAX7 FKHR融合基因表达。结论 检测横纹肌肉瘤组织中PAX3 FKHR和PAX7 FKHR融合基因mRNA的表达有助于横纹肌肉瘤的诊断和分型。

Objective To detect the PAX3-FKHR and PAX7-FKHR fusion transcripts in formalin-fixed, paraffin-embedded rhabdomyosarcoma tissues by one-step RT-PCR and discuss its diagnostic potential. Methode One-step RT-PCR were used to detect the expression of the PAX3-FKHR and PAX7-FKHR fusion transcrips in 15 cases of rhabdomyosarcoma (6 cases of ARMS,9 cases of ERMS and 1 case of PRMS) and 15 cases of non-rhabdomyosarcomous small round cell tumor . Results PAX3-FKHR and PAX7-FKHR fusion transcripts were positive in 3/6 and 1/6 of ARMS patients, respectively,and were all negative in ERMS,PRMS and Control tumors including 4 cases of synovial sarcoma,4 cases of Ewing′s sarcoma,4 cases of lymphoma and 3 cases of neuroblastoma. Conclusion Expression of PAX3-FKHR and PAX7-FKHR fusion transcripts detected by one-step RT-PCR is useful in diagnosis and classification of rhabdomyosarcoma.