biostudies-literatureCosta AFondazione S.Orsola1678https://www.ebi.ac.uk/biostudies/studies/S-EPMC9687304biostudies-literatureUnknown12(11)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.BiomoleculesSRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation.PMC9687304research project on sarcoma.Gozzellino LPasquinelli GCosta AStacchiotti SIndio VAstolfi ANannini MUrbini MPantaleo MAfalseSRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation.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.2022-01-01T00:00:00Z2022 Nov2025-04-25T21:06:02.36Z2025-04-06T08:34:25.356ZS-EPMC96873043642169210.3390/biom12111678