Chromosomal translocation involving USP6 gene in nodular fasciitis
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.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2014 |
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| Erschienen: |
2014 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:43 |
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| Enthalten in: |
Zhonghua bing li xue za zhi = Chinese journal of pathology - 43(2014), 8 vom: 27. Aug., Seite 533-6 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Chen, Jun [VerfasserIn] |
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| Themen: |
EC 3.4.19.12 |
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| Anmerkungen: |
Date Completed 16.05.2015 Date Revised 13.01.2020 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM24306652X |
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| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
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| 100 | 1 | |a Chen, Jun |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Chromosomal translocation involving USP6 gene in nodular fasciitis |
| 264 | 1 | |c 2014 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 16.05.2015 | ||
| 500 | |a Date Revised 13.01.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To investigate the frequency of USP6 gene rearrangement in nodular fasciitis (NF) and to evaluate its clinical application | ||
| 520 | |a 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) | ||
| 520 | |a 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 | ||
| 520 | |a CONCLUSIONS: USP6 gene rearrangement is a recurrent genetic event in NF. It is a valuable ancillary tool for the pathological diagnosis of these lesions | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Proto-Oncogene Proteins |2 NLM | |
| 650 | 7 | |a USP6 protein, human |2 NLM | |
| 650 | 7 | |a EC 3.4.19.12 |2 NLM | |
| 650 | 7 | |a Ubiquitin Thiolesterase |2 NLM | |
| 650 | 7 | |a EC 3.4.19.12 |2 NLM | |
| 700 | 1 | |a Ye, Xinqing |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Yao |e verfasserin |4 aut | |
| 700 | 1 | |a Wei, Changhong |e verfasserin |4 aut | |
| 700 | 1 | |a Zheng, Qian |e verfasserin |4 aut | |
| 700 | 1 | |a Zhong, Ping |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Shengming |e verfasserin |4 aut | |
| 700 | 1 | |a Luo, Yuan |e verfasserin |4 aut | |
| 700 | 1 | |a Liao, Zhiling |e verfasserin |4 aut | |
| 700 | 1 | |a Ye, Hongtao |e verfasserin |4 aut | |
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