【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 ,有助于DFSP的诊断和阐明其分子发生机制更多还原

【Abstract】 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.更多还原