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Updated: Aug 12, 2025
Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm
James A Watkins1,2, Helen Hatcher3, Shalini Malhotra4
1Department of Histopathology, Level 5, Laboratory Block, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, UK. james.watkins4@nhs.net.
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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