Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Sep;16(3):934-941.
doi: 10.1007/s12105-022-01423-y. Epub 2022 Mar 7.

SMARCB1 (INI1)-Deficient Sinonasal Carcinoma with Yolk Sac differentiation Showing Co-loss of SMARCA4 Immunostaining - A Case Report and Literature Review

Joanna K M Ng  1 , Jason Y K Chan  2 , Joshua J X Li  1 , Kinglam Tang  2 , David C M Yeung  2 , Amy B W Chan  3
Affiliations
Review

SMARCB1 (INI1)-Deficient Sinonasal Carcinoma with Yolk Sac differentiation Showing Co-loss of SMARCA4 Immunostaining - A Case Report and Literature Review

Joanna K M Ng et al. Head Neck Pathol. 2022 Sep.

Abstract

SMARCB1 (INI1)-deficient carcinoma of the sinonasal tract is a rare and distinct entity characterized by the loss of INI1 immunostain expression. These tumors are morphologically diverse, with isolated cases of yolk sac differentiation reported. We report the first case of SMARCB1-deficient sinonasal carcinoma that demonstrated co-loss of SMARCA4 immunostain, and reduced SMARCA2 and ARID1A staining, with the entire tumor showing histological and immunohistochemical evidence of yolk sac differentiation. The clinical, histological, immunohistochemical and molecular features were discussed and compared against SMARCB1-deficient sinonasal carcinomas with yolk sac differentiation and SMARCA4-deficeint sinonasal carcinomas reported in the literature. With a highly aggressive clinical course leading to mortality two months after presentation, the behavior of this tumor appears to be more comparable to that of SMARCA4-deficient sinonasal carcinomas. A comprehensive immunopanel including SMARCB1, SMARCA4, SMARCA2 and ARID1A may be advisable for assessment and prognostication of SWI/SNF-deficient tumors.

Keywords: INI1; SMARCA4; SMARCB1-deficient sinonasal carcinoma.

PubMed Disclaimer

Conflict of interest statement

The authors declare that there is no conflict of interest regarding the publication of this paper.

Figures

Fig.1
Fig.1
Histological sections of the tumor. a Low-power magnification showing that the tumor is entirely composed of glandular structures with yolk-sac features, H&E, 4x magnification; b tumor cells forming irregular angulated glands in a myxoedematous stromal background, H&E, 10x magnification
Fig. 2
Fig. 2
Immunoreactivity to yolk sac markers. a CDX2, 20x magnification; b HNF1β, 20x magnification; c SALL4, 20x magnification; d glypican3, 20x magnification; e c-KIT, 20x magnification; f AFP, 20x magnification
Fig. 3
Fig. 3
Loss of a SMARCB1 and b SMARCA4 staining, and reduced c SMARCA2 and d ARID1A staining, 20x magnification
Fig. 4
Fig. 4
Copy number variation plot showed that the SMARCB1 locus was deleted
Fig. 5
Fig. 5
Computed tomography showing the tumor in the nasal cavity involving orbit
See this image and copyright information in PMC

References

    1. Bishop JA, Antonescu CR, Westra WH. SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. Am J Surg Pathol. 2014;38(9):1282–9. doi: 10.1097/PAS.0000000000000285. - DOI - PMC - PubMed
    1. Agaimy A, Koch M, Lell M, Semrau S, Dudek W, Wachter DL, et al. SMARCB1(INI1)-deficient sinonasal basaloid carcinoma: a novel member of the expanding family of SMARCB1-deficient neoplasms. Am J Surg Pathol. 2014;38(9):1274–81. doi: 10.1097/PAS.0000000000000236. - DOI - PMC - PubMed
    1. Shah AA, Jain D, Ababneh E, Agaimy A, Hoschar AP, Griffith CC, et al. SMARCB1 (INI-1)-Deficient Adenocarcinoma of the Sinonasal Tract: A Potentially Under-Recognized form of Sinonasal Adenocarcinoma with Occasional Yolk Sac Tumor-Like Features. Head Neck Pathol. 2020;14(2):465–72. doi: 10.1007/s12105-019-01065-7. - DOI - PMC - PubMed
    1. Agaimy A, Jain D, Uddin N, Rooper LM, Bishop JA. SMARCA4-deficient Sinonasal Carcinoma: A Series of 10 Cases Expanding the Genetic Spectrum of SWI/SNF-driven Sinonasal Malignancies. Am J Surg Pathol. 2020;44(5):703–10. doi: 10.1097/PAS.0000000000001428. - DOI - PubMed
    1. Zamecnik M, Rychnovsky J, Syrovatka J. Sinonasal SMARCB1 (INI1) Deficient Carcinoma With Yolk Sac Tumor Differentiation: Report of a Case and Comparison With INI1 Expression in Gonadal Germ Cell Tumors. Int J Surg Pathol. 2018;26(3):245–9. doi: 10.1177/1066896917741549. - DOI - PubMed

LinkOut - more resources