The patient underwent surgical resection with limited neck dissection and subsequent pathologic examination with performed next generation sequencing confirmed the presence of epithelioid mesenchymal tumor with PTCH1-GLI1 gene fusion. To our knowledge, this is the first reported example of a mesenchymal tumor harboring GLI1 gene fusion initially evaluated by FNA.
over 2 years ago
Journal
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PTCH1 (Patched 1) • GLI1 (GLI Family Zinc Finger 1)
In this study, we identified a novel GLI1 fusion in a low-grade ESS that metastasized. ACTB:GLI1 and PTCH1:GLI1 fusions were previously described in a series of ESS (Brahmi et al., Cancers 2020), but authors related them to other soft tissue tumors. Further studies will determine if GLI1 fusions represent a prognostic biomarker and potential target in low-grade ESS.