SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review
Farkas M, Agaimy A, Švajdler M, Hauer L, Martínek P, Vaněček T, Pivovarčíková K, Prchlíková B, Simpson RH, Gočárová K, Vereš P, Slavík P, Behenská K, Marjanovic K, Michal M, Skálová A, Bradová M (2026)
Publication Type: Journal article
Publication year: 2026
Journal
DOI: 10.1007/s00428-026-04459-5
Abstract
Neoplasms with inactivating mutations in SWI/SNF chromatin remodeling complex subunits gained attention in the head and neck (H&N) region due to their poor clinical outcomes. The sinonasal tract is a recognized “hot-spot” for SMARCA4-deficient cancers, including SMARCA4-deficient sinonasal carcinomas, and most sinonasal teratocarcinosarcomas. To date, only two H&N SMARCA4-deficient carcinomas have been reported outside the sinonasal region. We identified eight cases of SMARCA4-deficient H&N carcinomas from the authors’ files and reviewed their clinicopathological features. All cases with available tissue blocks were investigated by molecular genetic methods using next-generation sequencing (NGS). The cohort included four sinonasal and four non-sinonasal tumors involving the tongue, oral floor, the upper jaw submucosa, and the hypopharynx. The extra-sinonasal cases affected three males and one female (ages 61–81). Histologically, two cases showed poorly differentiated small cell morphology, one case resembled salivary duct carcinoma, and one case had a dedifferentiated squamous cell carcinoma phenotype. Regional lymph node metastases were documented in two cases. Sinonasal tumors showed spindle cell morphology, olfactory neuroblastoma-like features with glandular or squamoid differentiation areas, and an undifferentiated small cell pattern. This study expands the known anatomical distribution and histological spectrum of SMARCA4-deficient H&N carcinomas. Their occurrence outside the sinonasal tract is rare and poses a diagnostic challenge. These tumors are highly aggressive and often present at advanced stages. In the sinonasal region, they can mimic olfactory neuroblastoma, while in other H&N sites, they can resemble neuroendocrine carcinoma.
Authors with CRIS profile
Additional Organisation(s)
Involved external institutions
Fakultní Nemocnice Plzeň
Czech Republic (CZ)
Royal Hospital Bucharest
Romania (RO)
University of Calgary
Canada (CA)
Comenius University Bratislava
Slovakia (SK)
Josip-Juraj-Strossmayer-Universität Osijek
Croatia (HR)
Czech Republic (CZ)
Royal Hospital Bucharest
Romania (RO)
University of Calgary
Canada (CA)
Comenius University Bratislava
Slovakia (SK)
Josip-Juraj-Strossmayer-Universität Osijek
Croatia (HR)
How to cite
APA:
Farkas, M., Agaimy, A., Švajdler, M., Hauer, L., Martínek, P., Vaněček, T.,... Bradová, M. (2026). SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review. Virchows Archiv. https://doi.org/10.1007/s00428-026-04459-5
MLA:
Farkas, Mihaela, et al. "SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review." Virchows Archiv (2026).
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