{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Costa A"],"funding":["Fondazione S.Orsola"],"pagination":["1678"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9687304"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(11)"],"pubmed_abstract":["The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests that <i>SRF</i> may play a role in carcinogenesis and tumor progression in various neoplasms, where it is often involved in different fusion events. Here we investigated <i>SRF</i> rearrangements in soft tissue tumors, along with a gene expression profile analysis to gain insight into the oncogenic mechanism driven by <i>SRF</i> fusion. Whole transcriptome analysis of cell lines transiently overexpressing the SRF::E2F1 chimeric transcript uncovered the specific gene expression profile driven by the aberrant gene fusion, including overexpression of SRF-dependent target genes and of signatures related to myogenic commitment, inflammation and immune activation. This result was confirmed by the analysis of two cases of myoepitheliomas harboring <i>SRF::E2F1</i> fusion with respect to <i>EWSR1</i>-fusion positive tumors. The recognition of the specific gene signature driven by <i>SRF</i> rearrangement in soft tissue tumors could aid the molecular classification of this rare tumor entity and support therapeutic decisions."],"journal":["Biomolecules"],"pubmed_title":["SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation."],"pmcid":["PMC9687304"],"funding_grant_id":["research project on sarcoma."],"pubmed_authors":["Gozzellino L","Pasquinelli G","Costa A","Stacchiotti S","Indio V","Astolfi A","Nannini M","Urbini M","Pantaleo MA"],"additional_accession":[]},"is_claimable":false,"name":"SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation.","description":"The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests that <i>SRF</i> may play a role in carcinogenesis and tumor progression in various neoplasms, where it is often involved in different fusion events. Here we investigated <i>SRF</i> rearrangements in soft tissue tumors, along with a gene expression profile analysis to gain insight into the oncogenic mechanism driven by <i>SRF</i> fusion. Whole transcriptome analysis of cell lines transiently overexpressing the SRF::E2F1 chimeric transcript uncovered the specific gene expression profile driven by the aberrant gene fusion, including overexpression of SRF-dependent target genes and of signatures related to myogenic commitment, inflammation and immune activation. This result was confirmed by the analysis of two cases of myoepitheliomas harboring <i>SRF::E2F1</i> fusion with respect to <i>EWSR1</i>-fusion positive tumors. The recognition of the specific gene signature driven by <i>SRF</i> rearrangement in soft tissue tumors could aid the molecular classification of this rare tumor entity and support therapeutic decisions.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-25T21:06:02.36Z","creation":"2025-04-06T08:34:25.356Z"},"accession":"S-EPMC9687304","cross_references":{"pubmed":["36421692"],"doi":["10.3390/biom12111678"]}}