粘液样脂肪肉瘤TLS/FUS-CHOP融合基因的检测
Detection of TLS/FUS-CHOP Fusion Gene Transcript in Myxoid Liposarcoma
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摘要: 目的:探讨在粘液样脂肪肉瘤石蜡包埋组织中检测TLS/FUS-CHOP特异性融合基因的可行性及TLS/FUS-CHOP融合基因表达在粘液样脂肪肉瘤诊断中的价值。方法:收集粘液样脂肪肉瘤石蜡包埋组织标本6例, 以粘液样脂肪瘤、脂肪母细胞瘤、粘液瘤、骨外粘液样软骨肉瘤、粘液纤维肉瘤作为阴性对照, 茁-肌动蛋白和茁2-微球蛋白作为内对照, 用逆转录聚合酶链反应(RT-PCR)和巢式PCR检测TLS/FUS-CHOP融合基因的表达。结果:6例粘液样脂肪肉瘤中4例检出茁-肌动蛋白mRNA表达, 5例检出茁2-微球蛋白mRNA表达, 其中3例检出II型TLS/FUS-CHOP融合基因mRNA表达。对照组均未检出TLS/FUS-CHOP融合基因的表达。结论:运用RT-PCR方法检测石蜡包埋组织中TLS/FUS-CHOP融合基因mRNA的表达可行, 有助于粘液样脂肪肉瘤的诊断和鉴别诊断。Abstract: Objective:To investigate the feasibility of detecting TLS/FUS-CHOP fusion gene transcript in paraffin-embedded tissue and its diagnostic value for myxoid liposarcoma. Methods: Six archival paraffin-embedded samples of myxoid liposarcoma were selected. Six cases of tumor with myxoid feature (including myxoid lipoma, lipoblastoma, myxoma, extraskeletal myxoid chondrosarcoma, myx-ofibrosarcoma)were used as negative control. 3-actin and 3z-microglobulin were used as internal control. Nested reverse transcription-polymerase chain reaction (RT-PCR)-based assay was performed to detect the TLS/FUS-CHOP fusion transcript. Results: 3-actin and 3Z-microglobulin were detected in 4/6 and 5/6 myxoid liposarcomas, respectively. The type II TLS/FUS-CHOP fusion transcript was found in 3 of 5 myxoid liposarcomas. 6 negative controls did not show detectable chimeric messages. Conclusion: Detection of TLS/FUS-CHOP fusion transcript in paraffin-embedded material by nested RT-PCR is feasible and is useful for the diagnosis and differential diagnosis of myxoid liposarcoma.