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伴有t(9;22)(q32;q12.2)的隆突性皮肤纤维肉瘤

Dermatofibrosarcoma protuberans harboring t(9;22)(q32;q12.2).

作者信息

Sonobe H, Furihata M, Iwata J, Ohtsuki Y, Chikazawa M, Taguchi T, Shimizu K

机构信息

Department of Pathology, Kochi Medical School, Japan.

出版信息

Cancer Genet Cytogenet. 1999 Apr;110(1):14-8.

PMID:10198616
Abstract

More than 20 cases of dermatofibrosarcoma protuberans (DFSP) exhibiting chromosomal abnormalities have been reported. Approximately three fourths of these tumors have harbored supernumerary ring chromosomes, which have been suggested to be specific for this tumor. However, a small number of DFSPs with translocations such as t(2;17), t(X;7), and t(17;22) have recently been reported. We report a DFSP arising in a 23-year-old woman which unexpectedly exhibited the balanced translocation, t(9;22)(q32;q12.2) as the only anomaly with G-band technique. Dual-color fluorescence in situ hybridization (FISH) confirmed these cytogenetic findings. Similar to that previously reported for DFSPs with translocations, the present tumor also lacked ring chromosomes.

摘要

已有超过20例表现出染色体异常的隆突性皮肤纤维肉瘤(DFSP)的病例报道。这些肿瘤中约四分之三含有额外的环状染色体,有人认为这是该肿瘤的特异性表现。然而,最近有少数具有诸如t(2;17)、t(X;7)和t(17;22)等易位的DFSP病例被报道。我们报告了一例发生在一名23岁女性身上的DFSP,通过G带技术意外发现其仅有的异常是平衡易位t(9;22)(q32;q12.2)。双色荧光原位杂交(FISH)证实了这些细胞遗传学结果。与之前报道的具有易位的DFSP相似,本病例肿瘤也没有环状染色体。

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