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An SRF-Rearranged Malignant Cellular Myoid Neoplasm with a Novel SRF-MKL2 Fusion: A Case Report
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  • Craig Erker,
  • Cameron Crowell,
  • Erica Schollenberg,
  • Thai Hoa Tran,
  • David Wilson,
  • Michael Bezuhly,
  • Daddy Mata-Mbemba,
  • Cristina Antonescu
Craig Erker
IWK Health Centre
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Cameron Crowell
IWK Health Centre

Corresponding Author:[email protected]

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Erica Schollenberg
IWK Health Centre
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Thai Hoa Tran
Centre Hospitalier Universitaire Sainte-Justine
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David Wilson
IWK Health Centre
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Michael Bezuhly
IWK Health Centre
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Daddy Mata-Mbemba
IWK Health Centre
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Cristina Antonescu
Memorial Sloan Kettering Cancer Center
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Abstract

10-20% of soft tissue sarcomas cannot be accurately classified with histology and immunohistochemistry (IHC) and require further molecular investigation. We report an unclassified myoid neoplasm in a 5-year-old girl presenting with localized left heel swelling and impaired weight-bearing. Histology and IHC determined this as an undifferentiated sarcoma. Molecular work-up of this soft-tissue lesion demonstrated a novel SRF-MKL2 fusion as well as chromosomal copy number anomalies including 1p, 6q, 22 loss, and 1q gain. Pathologic and molecular features of this tumor fit best in the SRF-rearranged family of cellular myoid tumors. The patient remains disease-free 20 months after margin-negative resection.