A Poorly Differentiated Non-keratinizing Sinonasal Squamous Cell Carcinoma with a Novel ETV6-TNFRSF8 Fusion Gene.
Aged
Biomarkers, Tumor
/ genetics
Carcinoma, Squamous Cell
/ genetics
Combined Modality Therapy
Diagnosis, Differential
Humans
Ki-1 Antigen
/ genetics
Magnetic Resonance Imaging
Male
Paranasal Sinus Neoplasms
/ genetics
Proto-Oncogene Proteins c-ets
/ genetics
Repressor Proteins
/ genetics
Tomography, X-Ray Computed
ETS Translocation Variant 6 Protein
ETV6
Sinonasal carcinoma
TNFRSF8
Journal
Head and neck pathology
ISSN: 1936-0568
Titre abrégé: Head Neck Pathol
Pays: United States
ID NLM: 101304010
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
19
10
2020
accepted:
06
11
2020
revised:
05
11
2020
pubmed:
5
1
2021
medline:
22
3
2022
entrez:
4
1
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33394379
doi: 10.1007/s12105-020-01249-6
pii: 10.1007/s12105-020-01249-6
pmc: PMC8633219
doi:
Substances chimiques
Biomarkers, Tumor
0
Ki-1 Antigen
0
Proto-Oncogene Proteins c-ets
0
Repressor Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1284-1288Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Informations de copyright
© 2021. Springer Science+Business Media, LLC, part of Springer Nature.
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