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血管样纤维组织细胞瘤中EWSR1和ATF1基因融合且无MITF-M转录本表达

Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma.

作者信息

Hallor Karolin Hansén, Mertens Fredrik, Jin Yuesheng, Meis-Kindblom Jeanne M, Kindblom Lars-Gunnar, Behrendtz Mikael, Kalén Anders, Mandahl Nils, Panagopoulos Ioannis

机构信息

Department of Clinical Genetics, University Hospital, Lund, Sweden.

出版信息

Genes Chromosomes Cancer. 2005 Sep;44(1):97-102. doi: 10.1002/gcc.20201.

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that usually occurs in children and young adults. Only two cases of AFH with genetic rearrangements have been reported previously; both of these had a FUS-ATF1 fusion gene. We have studied an AFH from a 9-year-old boy whose tumor displayed a t(12;22)(q13;q12) as the sole cytogenetic aberration. FISH,RT-PCR, and sequence analyses revealed an EWSR1-ATF1 fusion gene that has previously been reported in clear cell sarcoma (CCS), a soft tissue sarcoma that is morphologically and clinically distinct from AFH. This study thus has demonstrated that the EWSR1-ATF1 chimera represents a fusion gene that can be associated with different tumor types. Simultaneous expression of the EWSR1-ATF1 and MITF-M transcripts in CCS has led to the proposal that the MITF-M promoter is transactivated by EWSR1-ATF1. The AFH, however, did not express the MITF-M transcript, supporting the theory that MITF-M expression in CCS is a reflection of its cellular origin, rather than a consequence of the presence of an EWSR1-ATF1 fusion protein. Activation of the EWSR1-ATF1 oncogene is probably an early step in the transformation process, but the overall gene expression patterns are likely to vary considerably between AFH and CCS, in keeping with their clinicopathologic differences.

摘要

血管样纤维组织细胞瘤(AFH)是一种罕见的软组织肿瘤,通常发生于儿童和年轻人。此前仅报道过两例伴有基因重排的AFH;这两例均有FUS-ATF1融合基因。我们研究了一名9岁男孩的AFH,其肿瘤显示t(12;22)(q13;q12)为唯一的细胞遗传学异常。荧光原位杂交(FISH)、逆转录聚合酶链反应(RT-PCR)及序列分析揭示了一种EWSR1-ATF1融合基因,该基因此前已在透明细胞肉瘤(CCS)中报道过,透明细胞肉瘤是一种在形态学和临床上与AFH不同的软组织肉瘤。因此,本研究表明EWSR1-ATF1嵌合体代表一种可与不同肿瘤类型相关的融合基因。在CCS中EWSR1-ATF1和MITF-M转录本的同时表达促使人们提出MITF-M启动子被EWSR1-ATF1反式激活的观点。然而,AFH并不表达MITF-M转录本,这支持了以下理论:CCS中MITF-M的表达反映了其细胞起源,而非EWSR1-ATF1融合蛋白存在的结果。EWSR1-ATF1致癌基因的激活可能是转化过程中的早期步骤,但AFH和CCS之间的整体基因表达模式可能有很大差异,这与其临床病理差异相符。

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