A poorly differentiated non-keratinizing sinonasal squamous cell carcinoma with a novel ETV6-TNFRSF8 fusion gene Journal Article
| Authors: | Bubola, J.; MacMillan, C. M.; Weinreb, I.; Witterick, I.; Swanson, D.; Zhang, L.; Antonescu, C. R.; Dickson, B. C. |
| Article Title: | A poorly differentiated non-keratinizing sinonasal squamous cell carcinoma with a novel ETV6-TNFRSF8 fusion gene |
| Abstract: | Squamous cell carcinoma of the sinonasal tract is relatively rare and morphologically and genetically heterogeneous. We report the case of an adult male with a left sphenoid sinus mass. A biopsy revealed an undifferentiated carcinoma composed of sheets of epithelioid cells lacking keratinization and glandular formation. The tumor was associated with a prominent lymphoplasmacytic inflammatory infiltrate. Immunohistochemical staining demonstrated diffuse expression of pankeratin and p63; it was negative for p16. In addition, EBER was also negative. Morphologically the findings raised the possibility of non-keratinizing squamous cell carcinoma. RNA sequencing was undertaken to exclude the possibility of NUT carcinoma; interestingly, this revealed a novel ETV6-TNFRSF8 fusion transcript, which was independently confirmed by fluorescence in situ hybridization. The current case is illustrative because it broadens our understanding of the molecular pathogenesis of non-keratinizing squamous cell carcinoma and adds to the diversity of ETV6-rearranged malignancies. © 2021, Springer Science+Business Media, LLC, part of Springer Nature. |
| Keywords: | sinonasal carcinoma; etv6; tnfrsf8 |
| Journal Title: | Head and Neck Pathology |
| Volume: | 15 |
| Issue: | 4 |
| ISSN: | 1936-055X |
| Publisher: | Humana Press Inc |
| Date Published: | 2021-12-01 |
| Start Page: | 1284 |
| End Page: | 1288 |
| Language: | English |
| DOI: | 10.1007/s12105-020-01249-6 |
| PROVIDER: | scopus |
| PMCID: | PMC8633219 |
| PUBMED: | 33394379 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 3 January 2022 -- Source: Scopus |
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