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