A spindle cell neoplasm with MYH9::EGFR fusion and co-expression of S100 and CD34, further expanding the family of kinase fusion positive spindle cell neoplasms

Genes Chromosomes Cancer. 2023 Aug;62(8):483-488. doi: 10.1002/gcc.23134. Epub 2023 Mar 20.

Abstract

Soft tissue neoplasms displaying CD34 and S100 positivity with immunohistochemistry are rare with a wide morphological range and frequent neurotrophic tyrosine receptor kinase (NTRK) alterations. Recent reports describe fusions in other kinases besides NTRK in these tumors. In the present article, we report a case of a young male suffering from a soft tissue neoplasm in the lumbar region. At microscopic examination, it was a CD34 and S100-positive soft tissue tumor showing a multilobulated growth pattern composed of cells with pale cytoplasm and abundant normal smooth muscle stroma. The genetic profile showed two alterations affecting EGFR gene represented by a novel MYH9::EGFR fusion transcript and a p.K714N mutation.

Keywords: CD34; EGFR; NTRK; S100; sarcoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics
  • ErbB Receptors / genetics
  • Gene Fusion
  • Humans
  • Immunohistochemistry
  • Male
  • Myosin Heavy Chains / genetics
  • Receptor Protein-Tyrosine Kinases / genetics
  • Sarcoma* / genetics
  • Soft Tissue Neoplasms* / genetics

Substances

  • Biomarkers, Tumor
  • EGFR protein, human
  • ErbB Receptors
  • MYH9 protein, human
  • Myosin Heavy Chains
  • Receptor Protein-Tyrosine Kinases

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