石蜡包埋隆突性皮肤纤维肉瘤组织中COL1A1/PDGFB融合基因的表达  

Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase chain reaction using paraffin-embedded tissues

作　　者：杨江华[1] 胡文浩[1] 李锋[1] 陆天才[1] 李洪安[1] 常彬[1] 张学宝[1] 周小明[1] 党红卫[1] 

机构地区：[1]新疆石河子大学医学院病理学教研室,832002

出　　处：《中华病理学杂志》2003年第5期409-412,共4页Chinese Journal of Pathology

基　　金：国家自然科学基金资助项目 ( 3 9860 0 73 )

摘　　要：目的　检测隆突性皮肤纤维肉瘤 (DFSP)中COL1A1/PDGFB融合基因的表达并探讨其临床病理学意义。方法　应用一步法逆转录 聚合酶链反应 (RT PCR)检测 12例 4 %甲醛固定、石蜡包埋DFSP组织中t(17;2 2 ) (q2 2 ;q13.1)染色体易位融合基因COL1A1/PDGFBmRNA表达 ,并选用 2例纤维肉瘤、2例恶性纤维组织细胞瘤、3例平滑肌肉瘤、1例神经鞘瘤、1例纤维组织细胞瘤作为对照。结果　 12例DFSP中 8例 (6 7% )检出COL1A1/PDGFBmRNA的表达 ,其中PDGFB分别与COL1A1不同的位点相融合 ,而对照组均为阴性。结论　用一步法RT PCR检测石蜡包埋DFSP组织中特异性的COL1A1/PDGFBmRNA的表达 。Objective To detect the COL1A1/PDGFB fusion transcripts and discuss its clinicopathological significance in dermatofibroscoma protuberans.Methods Formalin fixed,paraffin-embedded tumor specimens from 12 patients with DFSP were reviewed by light microscope and the expression of COL1A1/PDGFB mRNA resulting from the reciprocal translocation t(17;22) (q22;q13.1) was detected by one-step revers transcriptase-polymerase chain reaction. The following tumor specimens were included as controls: 2 fibrosarcoma,2 malignant fibrous histocytoma,3 leiomyosarcoma, 1 dermarofibroma and 1 nerve shealth tumor. Results The COL1A1/PDGFB fusion transcripts were detected in 8(67%) of 12 samples from patients with DFSP.Nucletide sequence analysis using the PCR products confirmed that different regions of the COL1A1 gene,respectively,were fused with of PDGFB gene.No COL1A1/PDGFB fusion transcripts were detected in the control tumors. Conclusion Detection of specific COL1A1/PDGFB fusion transcripts in DFSP will help to diagnose the nature of DFSP and research the mechanism of its molecular histogenesis.

关 键 词：DFSP 表达 石蜡包埋 融合基因 隆突性皮肤纤维肉瘤 瘤组织 诊断 RNA 逆转录一聚合酶链反应 分子 

分 类 号：R739.5[医药卫生—肿瘤] R735[医药卫生—临床医学]