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不同类型软组织脂肪肉瘤中FUS-CHOP融合转录本的分析及其诊断意义。

Analysis of FUS-CHOP fusion transcripts in different types of soft tissue liposarcoma and their diagnostic implications.

作者信息

Willeke F, Ridder R, Mechtersheimer G, Schwarzbach M, Duwe A, Weitz J, Lehnert T, Herfarth C, von Knebel Doeberitz M

机构信息

Department of Surgery, University of Heidelberg, Germany.

出版信息

Clin Cancer Res. 1998 Jul;4(7):1779-84.

PMID:9676855
Abstract

In myxoid and round cell liposarcomas, a specific chromosomal translocation [(12;16)(q13;p11)] results in the expression of chimeric fusion transcripts encompassing parts of the FUS gene (16p11) at their 5' ends and the CHOP gene (12q13) at their 3' ends. Using a reverse transcription-PCR protocol, we determined the prevalence of FUS-CHOP fusion transcripts in a series of liposarcoma samples. Fusion transcripts were detected in 13 of 30 biopsy samples from soft tissue liposarcomas. Expression of fusion transcripts was not restricted to myxoid and round cell liposarcomas, as suggested previously; it was also detected in 1 of 3 well-differentiated and 4 of 14 pleomorphic liposarcomas. Sequence analysis revealed four different FUS-CHOP fusion transcript variants, two of which have not been described before. Furthermore, using FUS-CHOP fusion transcripts as targets in reverse transcription-PCR assays, we detected disseminated tumor cells in peripheral blood or bone marrow in 3 of 5 patients undergoing surgery for soft tissue liposarcoma.

摘要

在黏液样和圆形细胞脂肪肉瘤中,一种特定的染色体易位[(12;16)(q13;p11)]导致嵌合融合转录本的表达,这些转录本在其5'端包含部分FUS基因(16p11),在其3'端包含CHOP基因(12q13)。我们采用逆转录聚合酶链反应(RT-PCR)方法,测定了一系列脂肪肉瘤样本中FUS-CHOP融合转录本的发生率。在30例软组织脂肪肉瘤活检样本中,有13例检测到融合转录本。融合转录本的表达并不像之前所认为的那样仅限于黏液样和圆形细胞脂肪肉瘤;在3例高分化脂肪肉瘤中的1例以及14例多形性脂肪肉瘤中的4例中也检测到了融合转录本。序列分析揭示了4种不同的FUS-CHOP融合转录本变体,其中2种此前未曾被描述过。此外,以FUS-CHOP融合转录本作为逆转录聚合酶链反应检测的靶标,我们在5例接受软组织脂肪肉瘤手术的患者中,有3例在外周血或骨髓中检测到了播散性肿瘤细胞。

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