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Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature

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Abstract

GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid morphology and frequent S100 positivity. Typically, these multilobulated tumors consist of uniform epithelioid cells with bland nuclei and are organized into distinct nests and cords with conspicuously rich vasculature. We herein expand earlier findings by reporting a case of a 34-year-old female with an epithelioid mesenchymal tumor of the palate. The neoplastic cells stained positive for S100 protein and D2-40, whereas multiple other markers were negative. Genetic alterations were investigated by targeted RNA sequencing, and a PTCH1-GLI1 fusion was detected. Epithelioid mesenchymal tumors harboring a PTCH1-GLI1 fusion are vanishingly rare with only three cases reported so far. Due to the unique location in the mucosa of the soft palate adjacent to minor salivary glands, multilobulated growth, nested epithelioid morphology, focal clearing of the cytoplasm, and immunopositivity for S100 protein and D2-40, the differential diagnoses include primary salivary gland epithelial tumors, in particular myoepithelioma and myoepithelial carcinoma. Another differential diagnostic possibility is the ectomesenchymal chondromyxoid tumor. Useful diagnostic clues for tumors with a GLI1 rearrangement include a rich vascular network between the nests of neoplastic cells, tumor tissue bulging into vascular spaces, and absence of SOX10, GFAP and cytokeratin immunopositivity. Identifying areas with features of GLI1-rearranged tumors should trigger subsequent molecular confirmation. This is important for appropriate treatment measures as PTCH1-GLI1 positive mesenchymal epithelioid neoplasms have a propensity for locoregional lymph node and distant lung metastases.

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Data Availability

Data supporting the findings of this study are available within the article and its supplementary information files.

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Acknowledgements

This study was supported by study grant SVV 22639 from the Ministry of Education, Czech Republic (NK).

Funding

This study was supported by study grant SVV 22639 from the Ministerstvo školství, mládeže a tělovýchovy, Czech Republic (NK).

Author information

Author notes

  1. There are two senior authors of this manuscript (Ilmo Leivo and Alena Skálová).

Authors and Affiliations

  1. Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic

    Natálie Klubíčková, Zdeněk Kinkor, Michael Michal, Martina Baněčková, Michal Michal & Alena Skálová

  2. Department of Pathology, Bioptical Laboratory, Ltd., Pilsen, Czech Republic

    Natálie Klubíčková, Zdeněk Kinkor, Michael Michal, Martina Baněčková, Michal Michal & Alena Skálová

  3. Molecular and Genetic Laboratory, Bioptical Laboratory, Ltd., Pilsen, Czech Republic

    Veronika Hájková

  4. Department of Clinical and Molecular Pathology, Faculty of Medicine and Dentistry, Palacky University, and University Hospital Olomouc, Olomouc, Czech Republic

    Jaroslav Michálek

  5. Department of Oral and Maxillofacial Surgery, University Hospital Olomouc, Olomouc, Czech Republic

    Richard Pink

  6. Department of Plastic and Aesthetic Surgery, St. Anne’s University Hospital, and Faculty of Medicine, Masaryk University Brno, Brno, Czech Republic

    Zdeněk Dvořák

  7. Institute of Biomedicine, Pathology, University of Turku, and Turku University Hospital, Turku, Finland

    Ilmo Leivo

  8. Department of Pathology, Bioptical Laboratory, Ltd., Mikulášské náměstí 4, 326 00, Pilsen, Czech Republic

    Natálie Klubíčková

Authors
  1. Natálie Klubíčková
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  2. Zdeněk Kinkor
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  3. Michael Michal
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  4. Martina Baněčková
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  5. Veronika Hájková
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  6. Jaroslav Michálek
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  7. Richard Pink
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  8. Zdeněk Dvořák
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  9. Michal Michal
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  10. Ilmo Leivo
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  11. Alena Skálová
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by AS, JM and VH. The first draft of the manuscript was written by NK and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Natálie Klubíčková.

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Conflict of interest

The authors have no relevant financial or non-financial interests to disclose.

Ethical Approval

The study was approved by the institutional review board of the Faculty of Medicine in Pilsen, Charles University. The procedures used in this study adhere to the tenets of the Declaration of Helsinki.

Informed Consent

No patient consent was required for this study.

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Cite this article

Klubíčková, N., Kinkor, Z., Michal, M. et al. Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature. Head and Neck Pathol 16, 621–630 (2022). https://doi.org/10.1007/s12105-021-01388-4

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  • DOI: https://doi.org/10.1007/s12105-021-01388-4

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