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脂肪肉瘤的分子诊断:嵌合基因FUS/CHOP和EWS/CHOP的鉴定

[Molecular diagnosis of liposarcomas: identification of the chimeric genes FUS/CHOP and EWS/CHOP].

作者信息

Kekeeva T V, Riazantseva A A, Anreeva Iu Iu, Zavalishina L E, Babenko O V, Zaletaev D V, Petrov A N, Frank G A

出版信息

Arkh Patol. 2009 Sep-Oct;71(5):32-5.

PMID:19938700
Abstract

This paper presents the results of an analysis the chimeric genes FUS/CHOP and EWS/CHOP in patients diagnosed as having liposarcoma in order to make a differential diagnosis in both soft tissue tumors and various variants of liposarcoma. Liposarcomas were found in 5 of 7 cases of primary tumors: 4 chimeric transcripts of the FUS/CHOP type (5-2), a variant of alternative splicing of the FUS/CHOP type (5-2) with depletion in 14 p.n. anda rare variant of the EWS/CHOP type (7-2). Fluorescence in situ hybridization (FISH) confirmed translocations in the tumor samples with the chimeric genes being detected. Reverse transcription-polymerase chain reaction and FISH revealed no chimeric genes specific to myxoid sarcoma in a group of patients with other variants of liposarcoma. Thus, the findings support the strict specificity of the chimeric genes FUS/CHOP and EWS/CHOP for myxoid liposarcoma and the expression of these genes in most tumors of this type.

摘要

本文展示了对诊断为脂肪肉瘤的患者体内嵌合基因FUS/CHOP和EWS/CHOP的分析结果,以便对软组织肿瘤和脂肪肉瘤的各种变体进行鉴别诊断。在7例原发性肿瘤中有5例发现脂肪肉瘤:4个FUS/CHOP型嵌合转录本(5-2)、一种FUS/CHOP型(5-2)选择性剪接变体,其14号染色体短臂缺失,以及一种罕见的EWS/CHOP型(7-2)。荧光原位杂交(FISH)证实肿瘤样本中存在易位,并检测到嵌合基因。逆转录聚合酶链反应和FISH显示,在一组患有其他脂肪肉瘤变体的患者中,未发现黏液样肉瘤特有的嵌合基因。因此,这些发现支持了嵌合基因FUS/CHOP和EWS/CHOP对黏液样脂肪肉瘤具有严格特异性,且在大多数此类肿瘤中表达。

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[Molecular diagnosis of liposarcomas: identification of the chimeric genes FUS/CHOP and EWS/CHOP].脂肪肉瘤的分子诊断:嵌合基因FUS/CHOP和EWS/CHOP的鉴定
Arkh Patol. 2009 Sep-Oct;71(5):32-5.
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Expression of the FUS-CHOP fusion protein in primary mesenchymal progenitor cells gives rise to a model of myxoid liposarcoma.原发性间充质祖细胞中FUS-CHOP融合蛋白的表达产生了黏液样脂肪肉瘤模型。
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