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    BIOMARKER:

    PTCH1-GLI1 fusion

    i
    Other names: PTCH1, PTC1, Patched Homolog 1, Protein Patched Homolog 1, GLI1, GLI Family Zinc Finger 1, Glioma-Associated Oncogene Homolog 1 (Zinc Finger Protein), Zinc Finger Protein GLI1, Oncogene GLI, GLI, Glioma-Associated Oncogene Family Zinc Finger 1, GLI-Kruppel Family Member GLI1, Glioma-Associated Oncogene 1, Glioma-Associated Oncogene , PAPA8, PPD1
    Entrez ID:
    5727; 14632
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    almost2years
    Fine needle aspiration biopsy of epithelioid-mesenchymal neoplasm with PTCH1-GLI1 fusion: A case report. (PubMed, Diagn Cytopathol)
    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.
    Journal
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    PTCH1 (Patched 1) • GLI1 (GLI Family Zinc Finger 1)
    |
    PTCH1-GLI1 fusion
    over2years
    Detection of a Novel GLI1 Gene Fusion in Low Grade Endometrial Stromal Sarcoma (USCAP 2022)
    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.
    PTCH1 (Patched 1) • GLI1 (GLI Family Zinc Finger 1) • JAZF1 (JAZF Zinc Finger 1)
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    GLI1 expression • PTCH1-GLI1 fusion
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    Archer® FusionPlex® Sarcoma kit