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易位t(2;11)是胶原性纤维瘤(促结缔组织增生性纤维母细胞瘤)的特征。

Translocation t(2;11) is characteristic of collagenous fibroma (desmoplastic fibroblastoma).

作者信息

Nishio Jun, Akiho Syunsuke, Iwasaki Hiroshi, Naito Masatoshi

机构信息

Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.

出版信息

Cancer Genet. 2011 Oct;204(10):569-71. doi: 10.1016/j.cancergen.2011.10.003.

Abstract

Collagenous fibroma (desmoplastic fibroblastoma) is a rare, benign soft-tissue tumor composed of spindled and stellate-shaped cells embedded in a dense collagenous stroma. Recently, a translocation between chromosomes 2 and 11 or a rearrangement involving the chromosome 11q12 breakpoint was reported to be recurrent and unique in collagenous fibroma. Herein, we describe a case of collagenous fibroma arising in the left thigh of a 57-year-old man. Magnetic resonance imaging revealed a 5.5 cm soft-tissue mass deep relative to the vastus medialis with low signal intensity on both T1- and T2-weighted sequences. A marginal excision of the tumor was performed, and histopathologic features were consistent with collagenous fibroma. Cytogenetic analysis exhibited a reciprocal translocation involving the long arms of chromosomes 2 and 11. This finding suggests that the t(2;11) is likely to be of pathogenetic significance in a subset of collagenous fibromas.

摘要

胶原纤维瘤(促纤维增生性成纤维细胞瘤)是一种罕见的良性软组织肿瘤,由嵌入致密胶原基质中的梭形和星状细胞组成。最近,据报道2号和11号染色体之间的易位或涉及11q12染色体断点的重排在胶原纤维瘤中反复出现且具有独特性。在此,我们描述了一例发生在一名57岁男性左大腿的胶原纤维瘤病例。磁共振成像显示在股内侧肌深部有一个5.5 cm的软组织肿块,在T1加权和T2加权序列上均呈低信号强度。对肿瘤进行了边缘切除,组织病理学特征与胶原纤维瘤一致。细胞遗传学分析显示2号和11号染色体长臂之间存在相互易位。这一发现表明,t(2;11)可能在一部分胶原纤维瘤中具有致病意义。

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