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Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm

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Abstract

Background

Spindle cell tumours in the sinonasal area are diagnostically challenging. We identified a neoplasm that defied histopathological classification using current criteria.

Methods

The case was subjected to histopathological, immunohistochemical and molecular analysis using a large small variant DNA panel.

Results

The tumour comprised cytologically bland epithelioid spindle cells with a rich vasculature, which lack expression of actin and other smooth muscle markers, CD34 and beta-catenin. An activating insertion/deletion in exon 12 of the PDGFRA gene was detected. This alteration has previously been described in gastrointestinal stromal tumours and inflammatory fibroid polyps of the GI tract, but the site, histological, and immunophenotypic features in this tumour are distinct.

Conclusion

We describe a novel sinonasal spindle cell tumour characterised by an activating insertion/deletion in exon 12 of PDGFRA. The diagnosis of PDGFRA-activated sinonasal spindle cell tumour should be considered in difficult to classify mesenchymal lesions at this site.

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Data Availability

The genomic data for this case have been submitted to the Catalogue Of Somatic Mutations In Cancer (COSMIC) database (https://cancer.sanger.ac.uk/cosmic). The data have been assigned the signifier COSP51117 and will be made public following the variant being associated with a PubMed ID.

Code Availability

Analysis was performed using commercially available proprietary software TSO500 Local App v2.2 (Illumina).

References

  1. Guérit E, Arts F, Dachy G et al (2021) PDGF receptor mutations in human diseases. Cell Mol Life Sci 78:3867–3881. https://doi.org/10.1007/s00018-020-03753-y

    Article  CAS  PubMed  Google Scholar 

  2. Heinrich MC, Corless CL, Duensing A et al (2003) PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299:708–710

    Article  CAS  PubMed  Google Scholar 

  3. Huss S, Wardelmann E, Goltz D et al (2012) Activating PDGFRA mutations in inflammatory fibroid polyps occur in exons 12, 14 and 18 and are associated with tumour localization. Histopathology 61:59–68. https://doi.org/10.1111/j.1365-2559.2012.04203.x

    Article  PubMed  Google Scholar 

  4. Lasota J, Zeng-Feng Wang Z, Sobin L et al (2009) Gain-of-function PDGFRA mutations, earlier reported in gastrointestinal stromal tumors, are common in small intestinal inflammatory fibroid polyps. A study of 60 cases. Modern Pathol 22:1049–1056. https://doi.org/10.1038/modpathol.2009.62

    Article  CAS  Google Scholar 

  5. Lasota J, Dansonka-Mieszkowska A, Sobin L et al (2004) A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest 84(7):874–883. https://doi.org/10.1038/labinvest.3700122

    Article  CAS  PubMed  Google Scholar 

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Funding

No funding was received to assist with the conducting of this study or the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Department of Histopathology, Level 5, Laboratory Block, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 0QQ, UK

    James A. Watkins, Shalini Malhotra & John A. Tadross

  2. Department of Oncology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

    Helen Hatcher

  3. Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

    James A. Watkins, Jonathan Bruty, Jamie Trotman, Patrick Tarpey & John A. Tadross

  4. Department of Surgery, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

    Furrat Amen

  5. MRC Metabolic Diseases Unit, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK

    John A. Tadross

Authors
  1. James A. Watkins
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  2. Helen Hatcher
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  3. Shalini Malhotra
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  4. Furrat Amen
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  5. Jonathan Bruty
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  6. Jamie Trotman
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  7. Patrick Tarpey
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  8. John A. Tadross
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Contributions

All authors contributed to the study conception and design. Collection of clinical data was performed by HH, FA and SM. Data acquisition and analysis were performed by JW, JT, JB and PT. The first draft of the manuscript was written by JW and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to James A. Watkins.

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Conflict of interest

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

Consent to Participate

Informed consent was obtained from all individual participants included in the study.

Consent for Publication

Consent for publication was obtained for every individual person’s data included in the study.

Ethical Approval

Local ethical approval was waived in view of the retrospective nature of the study and all the procedures performed being part of the routine care.

Research Involving Humans and/or Animals

This article does not contain any experimental studies with human or animal subjects.

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Watkins, J.A., Hatcher, H., Malhotra, S. et al. Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm. Head and Neck Pathol 17, 576–580 (2023). https://doi.org/10.1007/s12105-023-01526-0

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  • DOI: https://doi.org/10.1007/s12105-023-01526-0

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