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SRF fusion genes in myoid soft tissue tumors

Ariane Sablon1, Constance Pirson1, Cristina R Antonescu2

  • 1de Duve Institute, UCLouvain, Brussels, Belgium.

The Journal of Pathology
|August 19, 2026
PubMed

Insights

Recurrent gene rearrangements involving Serum response factor (SRF) are now recognized in various soft tissue tumors. These SRF fusions lead to abnormal gene activation, impacting myogenesis and cell growth, particularly in pediatric patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Serum response factor (SRF) is a key transcription factor for immediate early genes, cytoskeletal organization, and muscle differentiation.
  • Genomic alterations of SRF were previously considered absent in human neoplasms.
  • Recent findings reveal recurrent SRF gene rearrangements in diverse soft tissue tumors with myogenic features.

Purpose of the Study:

  • To review current knowledge on SRF fusion genes.
  • To discuss the biological and clinical implications of SRF rearrangements in soft tissue tumors.
  • To explore the role of SRF fusions in tumorigenesis and potential therapeutic strategies.

Main Methods:

  • Literature review of studies identifying and characterizing SRF gene rearrangements in soft tissue tumors.
  • Analysis of the structural configuration of SRF fusion proteins.
  • Examination of the transcriptional dysregulation caused by SRF fusions.
  • Review of clinical and pathological features of SRF-rearranged tumors.

Main Results:

  • SRF fusions involve retaining the DNA-binding domain and replacing the transactivation domain with that of a partner protein.
  • These fusions result in constitutive SRF activation, dysregulating myogenesis, cytoskeleton organization, and inflammatory signaling.
  • SRF-rearranged tumors predominantly affect children, often exhibit low-grade behavior, and are typically cured by surgery, though rare recurrences occur.
  • SRF-rearranged perivascular myoid neoplasms represent a distinct entity, while SRF fusions in rhabdomyosarcomas may indicate separate contexts.

Conclusions:

  • SRF fusion-driven transcriptional dysregulation offers insights into soft tissue tumorigenesis.
  • SRF rearrangements are significant in specific pediatric soft tissue neoplasms, particularly perivascular myoid tumors.
  • Understanding these mechanisms may guide future diagnostic and therapeutic approaches for myoid soft tissue tumors.
Keywords:
SRF fusion genesinflammatory myofibroblastic tumormyoepitheliomamyogenesisoncogenic fusionsperipheral nerve sheath tumorperivascular tumorrhabdomyosarcomatranscription factor

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