SMARCA4-deficient Sinonasal Carcinoma: A Case Report and Literature Review

Authors

  • Teerasit Viyanant Department of Pathology, Rajavithi Hospital

Keywords:

SMARCA4, BRG1, SWI/SNF complex-deficient sinonasal carcinoma

Abstract

SMARCA4-deficient sinonasal carcinoma a subtype of SWI/SNF complex-deficient sinonasal carcinomas is a rare, highly aggressive sinonasal malignancy with only 23 cases reported in the literature to date. We present a case of a 70-year-old woman referred to our institution with a preliminary diagnosis of small cell neuroendocrine carcinoma. A computed tomography revealed a nasal cavity mass extending into the sphenoid sinus and nasopharynx, without involvement of the skull base, pterygoid, or orbit. Histologic examination revealed monomorphic, large, undifferentiated neoplastic cells that showed loss of SMARCA4 expression. SMARCA4-deficient sinonasal carcinoma is a rare malignant neoplasm with an aggressive clinical course and poor prognosis. Diagnosis typically relies on a combination of histologic findings and immunohistochemical staining to identify this high-grade malignancy.

References

Agarwal A, Bhatt AA, Bathla G, Kanekar S, Soni N, Murray J, et al. Update from the 5th Edition of the WHO classification of nasal, paranasal, and skull base tumors: imaging overview with histopathologic and genetic Correlation. American Journal of Neuroradiology 2023;44(10):1116-25.

Agaimy A, Uddin N, Jain D, Rooper L, Bal M, Mittal N. SWI/SNF complex-deficient sinonasal carcinoma. In: WHO Classification of Tumours Editorial Board. Head and neck tumours. 5th ed Vol.9 [Internet]. Lyon (France): International Agency for Research on Cancer; 2023 [cited 2023 Apr 10]. Available from: https:// tumourclassification.iarc.who.int/chapters/52.

Agaimy A, Weichert W. SMARCA4-deficient Sinonasal Carcinoma. Head Neck Pathol 2017;11(4):541-5.

Agaimy A, Jain D, Uddin N, Rooper LM, Bishop JA. SMARCA4-deficient Sinonasal Carcinoma. Am J Surg Pathol 2020;44(5):703-10.

Kakkar A, Ashraf SF, Rathor A, Adhya AK, Mani S, Sikka K, et al. SMARCA4/BRG1-Deficient Sinonasal Carcinoma. Arch Pathol Lab Med 2022;146(9):1122-30.

Jo VY, Chau NG, Hornick JL, Krane JF, Sholl LM. Recurrent IDH2 R172X mutations in sinonasal undifferentiated carcinoma. Mod Pathol 2017;30(5):650-9.

Li C, Wang YM, Zhang J. [SMARCA4-deficient sinonasal carcinoma: report of a case]. Zhonghua Bing Li Xue Za Zhi 2022;51(2):157-9.

Mittal P, Roberts CWM. The SWI/SNF complex in cancer - biology, biomarkers and therapy. Nat Rev Clin Oncol 2020;17(7):435-48.

Guerrero-Martínez JA, Reyes JC. High expression of SMARCA4 or SMARCA2 is frequently associated with an opposite prognosis in cancer. Sci Rep 2018;8(1):2043.

Agaimy A, Franchi A, Lund VJ, Skálová A, Bishop JA, Triantafyllou A, et al. Sinonasal Undifferentiated Carcinoma (SNUC): from an entity to morphologic pattern and back again-a historical perspective. Adv Anat Pathol 2020;27(2):51-60.

Agaimy A. Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient sinonasal neoplasms: an overview. Head Neck Pathol 2022;16(1): 168-78.

Juhlin CC, Bal M. Top 10 histological mimics of neuroendocrine carcinoma you should not miss in the head and neck. Head Neck Pathol 2023;17(1):66-84.

Thawani R, Kim MS, Arastu A, Feng Z, West MT, Taflin NF, et al. The contemporary management of cancers of the sinonasal tract in adults. CA Cancer J Clin 2023;73(1):72-112.

Downloads

Published

15-09-2025

How to Cite

1.
Viyanant T. SMARCA4-deficient Sinonasal Carcinoma: A Case Report and Literature Review. J DMS [internet]. 2025 Sep. 15 [cited 2025 Dec. 5];50(3):133-8. available from: https://he02.tci-thaijo.org/index.php/JDMS/article/view/270446