IndraLab

Statements


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"RNASeq further detected COL1A1-USP6 fusion in six cases and a novel ANGPTL2-USP6 fusion in one case."

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"In addition to histological features consistent with MOC, PCR analysis identified the transcript COL1A1-USP6, recently reported in some cases of MOC [6]."

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"Previous cytogenetic with subsequent RNA sequencing studies xref , xref in two STABCs showed COL1A1-USP6 fusion involving exon 1 of COL1A1 and a splicing variant of USP6 exon 1 or exon 2."

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"Sharing COL1A1-USP6 fusion, FO and FOPD exhibited similar central or haphazard bone matrix deposition."

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"Molecular analysis revealed the presence of COL1A1-USP6 transcript X-ray scans: note right soft tissue neck opacity compared with left side, indicating swelling (A, white arrow)"

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"Majority of cases show COL1A1USP6 fusion and herein we have described an additional case with ANGPTL2 gene as a novel fusion partner with USP6 ."

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"Pathology revealed the presence of muscular tissue mixed with fibroblastic/myofibroblastic proliferation and ossification areas consistent with myositis ossificans (Fig. 4); COL1A1-USP6 fusion transcript upon molecular investigation by RT-PCR method was found."

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"COL1A1-USP6 fusion was predominant in ossifying lesions, including all FOs, MOs, ST-ABCs, and FOPDs with identified partner genes, and also present in non-ossifying head and neck NFs (HN-NFs) and C-FTSs in 2 cases each."

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"We detected a MYH9-USP6 fusion in the two hip cases and a COL1A1-USP6 fusion in the shoulder case."

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"Notably, we believed that FO may demonstrate more similar clinicopathologic and genetic manifestations with MO/FOPD and ST-ABC instead of nodular fasciitis for involving lower limbs most frequently and showing recurrent COL1A1::USP6 fusion."

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"Pathology revealed the presence of muscular tissue mixed with fibroblastic/myofibroblastic proliferation and ossification areas consistent with myositis ossificans (Fig.  xref ); COL1A1-USP6 fusion transcript upon molecular investigation by RT-PCR method was found."

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"In 6/7 cases RNASeq showed a COL1A1-USP6 fusion."

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"Molecular analysis revealed the presence of COL1A1-USP6 transcript"

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"Among 11 IMTs with no kinase gene rearrangement identified, one tumour demonstrated ALK activation via gene amplification and overexpression, and another neoplasm carried COL1A1::USP6 translocation."

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"Next-generation sequencing revealed COL1A1-USP6 fusion in 2 tumors and COL3A1-USP6 fusion in the third tumor."

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"In addition to histological features consistent with MOC, PCR analysis identified the transcript COL1A1-USP6 , recently reported in some cases of MOC [ xref ]."

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"Thirteen cases showed COL1A1::USP6 fusion, one showed MYH9::USP6 fusion, and 4 were negative for common fusion types."