促纤维增生性小圆细胞肿瘤石蜡包埋组织中EWS-WT1融合转录子的检测

Detection of EWS-WT1 fusion transcripts in paraffin-embedded tissues for desmoplastic small round cell tumor

目的:探讨促纤维增生性小圆细胞肿瘤(DSRCT)石蜡包埋组织中EWS WT1融合基因表达的临床病理意义及其应用价值。方法:收集DSRCT石蜡包埋组织4例,原始神经外胚叶瘤/尤文肉瘤(PNET/ES) 2例,腺泡状横纹肌肉瘤2例,淋巴瘤2例,应用逆转录聚合酶链反应(RT PCR)检测t( 11; 22 ) (p13;q12 )染色体易位融合基因EWS WT1的表达。结果: 4例DSRCT中有3例检测出融合基因的表达,对照组均没有检测出。结论:DSRCT石蜡包埋组织中检测EWS WT1融合基因的表达具有较好的敏感性和特异性,可作为临床病理诊断和鉴别诊断DSRCT的一个可靠的基因诊断指标。

Objective: To detect the EWS-WT1 chimeric mRNA in desmoplastic small round cell tumor(DSRCT) and its clinicopathological significance. Methods: Formalin fixed, paraffin-embedded tumor specimens from 4 examples of this entity were studied by reverse transcriptase polymerase chain reaction to detect the EWS-WT1 fusion transcripts resulting from the chromosomal translocation t(11;22)(p13;q12).The following tumor specimens were included as controls: 2 Ewing's sarcomas/primitive neuroectodermal tumors(PNET/ES), 2 alveolar rhabdomyosarcomas, and 2 lymphomas. Results:EWS-WT1 fusion transcripts were detected in 3 of 4 desmoplastic small round cell tumors but not in any other tumor types studied as controls. Conclusion:The analysis of the EWS-WT1 fusion transcript which was performed on formalin-fixed, paraffin-embedded tissues is a sensitive and specific method in the diagnosis and differential diagnosis of DSRCT.