Open AccessA Poorly Differentiated Non-keratinizing Sinonasal Squamous Cell Carcinoma with a Novel ETV6-TNFRSF8 Fusion Gene
Author(s) -
Justin Bubola,
Christina MacMillan,
Ilan Weinreb,
Ian Witterick,
David Swanson,
Lei Zhang,
Cristina R. Antonescu,
Brendan C. Dickson
Publication year - 2021
Publication title -
head and neck pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.801
H-Index - 50
eISSN - 1936-0568
pISSN - 1936-055X
DOI - 10.1007/s12105-020-01249-6
Subject(s) - pathology , biology , fusion gene , immunohistochemistry , fluorescence in situ hybridization , etv6 , biopsy , carcinoma , in situ hybridization , medicine , gene , gene expression , chromosomal translocation , biochemistry , chromosome
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.