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.
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.
Authors: Nimesh R Patel; John S A Chrisinger; Elizabeth G Demicco; Stephen F Sarabia; Jacquelyn Reuther; Erica Kumar; Andre M Oliveira; Steven D Billings; Judith V M G Bovée; Angshumoy Roy; Alexander J Lazar; Dolores H Lopez-Terrada; Wei-Lien Wang Journal: Mod Pathol Date: 2017-07-28 Impact factor: 7.842
Authors: Jeffrey M Cloutier; Christian A Kunder; Gregory W Charville; Elizabeth M Hosfield; Joaquín J García; Ryanne A Brown; Megan L Troxell; Kimberly H Allison; Gregory R Bean Journal: Mod Pathol Date: 2021-06-07 Impact factor: 7.842