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对4例隆凸性皮肤纤维肉瘤基因突变的分析
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作者 Saeki H. tamada y. +1 位作者 Watanabe D. 吴佳纹 《世界核心医学期刊文摘(皮肤病学分册)》 2006年第5期41-42,共2页
Fusion of the collagen type I α 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been descr-ibed in dermatofibrosarcoma protuberans(DFSP).Various exons of the COL1A1 gene have been sho... Fusion of the collagen type I α 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been descr-ibed in dermatofibrosarcoma protuberans(DFSP).Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. We examined the breakpoints of the COL1A1 gene using the tumour specimens from four patients with DFSP. The COL1A1-PDGFB fusion transcripts were detected from the cultured tumour cells by reverse transcriptase polymerase chain reaction. Sequence analysis revealed that the ends of exons 23, 25, 26 and 36 in the COL1A1 gene were fusedwith the start of exon 2 in the PDGFB. This study identified three novel COL1A1 breakpoints: exons 23, 26 and 36 of the COL1A1 gene. In one case, the tumour was composed of two areas that differed in cytological atypia, cellularity and mitotic activity, indicating the de-differentiation of the tumour. In tumour cells from two different areas the same aberrant fusion transcripts were identified. These results suggest that the dedifferentiation of tumour cells has nothing to do with the specific breakpoints of the COL1A1 gene,depends on other unknown factors. 展开更多
关键词 基因突变 聚合酶链反应 去分化 标本检测 断裂点 反转录酶 序列分析 未知因素 特异性
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