[Chromosomal translocation involving USP6 gene in nodular fasciitis].

Abstract

OBJECTIVE To investigate the frequency of USP6 gene rearrangement in nodular fasciitis (NF) and to evaluate its clinical application. METHODS Twenty nine cases of previously diagnosed NF were screened for the presence of the USP6 gene rearrangement by interphase fluorescence-in-situ hybridization (FISH) on formalin-fixed paraffin-embedded tissue. Fifteen of these cases, which had available tissue, were also analysed for MYH9-USP6 fusion transcripts by reverse transcription-polymerase chain reaction (RT-PCR). RESULTS Twenty four of the 29 cases (83%) were positive for the USP6 gene rearrangement by interphase FISH. The 15 cases with RT-PCR showed the following results: 11 positive, one deletion and three negative for USP6 gene rearrangement. Of these 15 cases, eight (8/15) showed MYH9-USP6 fusion transcript by RT-PCR. Of these eight cases, seven were positive for USP6 gene rearrangement and one showed USP6 deletion by FISH. CONCLUSIONS USP6 gene rearrangement is a recurrent genetic event in NF. It is a valuable ancillary tool for the pathological diagnosis of these lesions.

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@article{Chen2014ChromosomalTI, title={[Chromosomal translocation involving USP6 gene in nodular fasciitis].}, author={Jun Jie Chen and Xinqing Ye and Yao Li and Changhong Wei and Qian Zheng and Ping Zhong and Shengming Wu and Yuan Luo and Zhiling Liao and Hongtao Ye}, journal={Zhonghua bing li xue za zhi = Chinese journal of pathology}, year={2014}, volume={43 8}, pages={533-6} }