{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T05:00:24Z","timestamp":1776229224912,"version":"3.50.1"},"reference-count":37,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:00:00Z","timestamp":1776038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objectives: We aimed to characterize the clinicopathologic features, treatment, and outcomes of three types of Switch\/Sucrose Nonfermentable (SWI\/SNF)-deficient sinonasal carcinomas (SDSCs), thereby expanding the spectrum of these rare entities and facilitating early diagnosis. Methods: We designed a retrospective single-center case series to analyze the clinicopathological features of 17 patients with SMARCB1-deficient sinonasal carcinoma (n = 10), SMARCA4-deficient carcinoma (n = 6) and SMARCA4-deficient sinonasal teratocarcinosarcoma (TCS) (n = 1) treated between 2018 and 2025, and reviewed the relevant literature. Results: The cohort included 14 males and 3 females, aged 26 to 69 years (mean, 47 years). SMARCB1-deficient sinonasal carcinomas predominantly involved the ethmoid sinus (6 of 8 patients), presenting epistaxis (7 of 10 patients), nasal obstruction (5 of 10 patients), and ocular symptoms (4 of 10 patients). SMARCA4-deficient sinonasal carcinomas mainly arose in the nasal cavity (3 of 4 patients), characterized by nasal obstruction (4 of 6 patients), and epistaxis or purulent rhinorrhea (4 of 6 patients); ocular symptoms were less common (2 of 6 patients). The TCS patient had left nasal cavity and ethmoid involvement with nasal obstruction and purulent rhinorrhea. Most patients presented with advanced-stage disease (T4a, n = 9), with skull base (n = 6), and orbital (n = 3) involvement. Histologically, immunohistochemical analysis confirmed complete SMARCB1 or SMARCA4 loss (complete in carcinomas and partial in TCS), diffuse CK positivity, and high Ki-67 indices. Treatment modalities included: chemotherapy and immunotherapy without surgery (n = 2), radical surgery with adjuvant chemoradiotherapy and immunotherapy (n = 2), radical surgery with chemoradiotherapy (n = 9), postoperative radiotherapy alone (n = 3), and non-radical surgery with chemoradiotherapy (n = 1). At a median follow-up of 19 months (range, 8\u201357 months), 2 patients were lost to follow-up, 3 died, 2 had persistent disease, and 10 remained disease-free. Conclusions: SDSC is an aggressive tumor with male predominance and advanced-stage presentation. Early recognition and appropriate immunohistochemical evaluation are essential for timely diagnosis and management. Prospective studies of novel targeted and immunotherapeutic strategies are warranted.<\/jats:p>","DOI":"10.3390\/jcm15082939","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T08:49:02Z","timestamp":1776070142000},"page":"2939","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["SWI\/SNF-Deficient Sinonasal Carcinomas: A Retrospective Case Series of 17 Patients from a Single Institution"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3930-9705","authenticated-orcid":false,"given":"Zijun","family":"Qiu","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7825-3569","authenticated-orcid":false,"given":"Aodeng","family":"Surita","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaowei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingxian","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenzhen","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1158\/1078-0432.CCR-13-0280","article-title":"Molecular pathways: SWI\/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic insights","volume":"20","author":"Wang","year":"2014","journal-title":"Clin. Cancer Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1097\/PAS.0b013e31822b325b","article-title":"INI1-deficient tumors: Diagnostic features and molecular genetics","volume":"35","author":"Hollmann","year":"2011","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1007\/s12105-022-01416-x","article-title":"Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI\/SNF-deficient Sinonasal Neoplasms: An Overview","volume":"16","author":"Agaimy","year":"2022","journal-title":"Head Neck Pathol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s12105-021-01406-5","article-title":"Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Nasal Cavity, Paranasal Sinuses and Skull Base","volume":"16","author":"Thompson","year":"2022","journal-title":"Head Neck Pathol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1097\/PAS.0000000000000797","article-title":"SMARCB1 (INI-1)-deficient Sinonasal Carcinoma: A Series of 39 Cases Expanding the Morphologic and Clinicopathologic Spectrum of a Recently Described Entity","volume":"41","author":"Agaimy","year":"2017","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1038\/s41379-022-01133-4","article-title":"Molecular and immunophenotypic characterization of SMARCB1 (INI1)-deficient intrathoracic Neoplasms","volume":"35","author":"Haberecker","year":"2022","journal-title":"Mod. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Vuong, H.G., Le, T., Le, T.T., Le, H.T., El-Rassi, E.T., McKinney, K.A., and Dunn, I.F. (2023). Clinicopathological features and prognostic outcomes of molecularly defined entities in the new edition of the WHO classification of sinonasal carcinoma. Front. Oncol., 13.","DOI":"10.3389\/fonc.2023.1117865"},{"key":"ref_8","first-page":"e59684","article-title":"A Case of SMARCB1-Deficient Sinonasal Carcinoma With Clear Cell Morphology","volume":"16","author":"Tamaki","year":"2024","journal-title":"Cureus"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s12105-017-0783-4","article-title":"SMARCA4-deficient Sinonasal Carcinoma","volume":"11","author":"Agaimy","year":"2017","journal-title":"Head Neck Pathol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1097\/PAS.0000000000001428","article-title":"SMARCA4-deficient Sinonasal Carcinoma: A Series of 10 Cases Expanding the Genetic Spectrum of SWI\/SNF-driven Sinonasal Malignancies","volume":"44","author":"Agaimy","year":"2020","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.5858\/arpa.2021-0001-OA","article-title":"SMARCA4\/BRG1-Deficient Sinonasal Carcinoma","volume":"146","author":"Kakkar","year":"2022","journal-title":"Arch. Pathol. Lab. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/hed.27864","article-title":"Outcomes of SWI\/SNF complex-deficient sinonasal carcinomas in a Southeast Asian cohort","volume":"47","author":"Xu","year":"2025","journal-title":"Head Neck"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"967","DOI":"10.4143\/crt.2023.1308","article-title":"Molecular and Treatment Characteristics of SMARCB1 or SMARCA4-Deficient Undifferentiated Tumor: Retrospective Case Series","volume":"56","author":"Kang","year":"2024","journal-title":"Cancer Res. Treat."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"NP154","DOI":"10.1177\/01455613221082622","article-title":"SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma: A Case Report and Literature Review","volume":"104","author":"Yang","year":"2025","journal-title":"Ear Nose Throat J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1007\/s00428-022-03449-7","article-title":"Targeted next-generation sequencing reveals activating CTNNB1 mutations in SMARCA4\/BRG1-deficient sinonasal carcinomas: A report of two new cases and a brief review of the literature with an emphasis on histogenesis","volume":"482","author":"Zhao","year":"2023","journal-title":"Virchows Arch."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1097\/PAS.0000000000000236","article-title":"SMARCB1 (INI1)-deficient sinonasal basaloid carcinoma: A novel member of the expanding family of SMARCB1-deficient neoplasms","volume":"38","author":"Agaimy","year":"2014","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_17","unstructured":"El-Naggar, A., Chan, J., Grandis, J., Takashi, T., and Slootweg, P. (2017). Sinonasal undifferentiated carcinoma. WHO Classification of Tumors of Head and Neck, IARC Press. [4th ed.]."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1097\/PAS.0000000000001508","article-title":"Recurrent loss of SMARCA4 in sinonasal teratocarcinosarcoma","volume":"44","author":"Rooper","year":"2020","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1097\/PAP.0000000000000372","article-title":"SWI\/SNF-deficient Sinonasal Carcinomas","volume":"30","author":"Agaimy","year":"2023","journal-title":"Adv. Anat. Pathol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1097\/PAS.0000000000000285","article-title":"SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract","volume":"38","author":"Bishop","year":"2014","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1053\/j.semdp.2021.02.002","article-title":"SWI\/SNF-deficient head and neck neoplasms: An overview","volume":"38","author":"Agaimy","year":"2021","journal-title":"Semin. Diagn. Pathol."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Lee, V.H.-F., Tsang, R.K.-Y., Lo, A.W.I., Chan, S.-Y., Chung, J.C.-K., Tong, C.-C., Leung, T.-W., and Kwong, D.L.-W. (2022). SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma: A Systematic Review and Pooled Analysis of Treatment Outcomes. Cancers, 14.","DOI":"10.2139\/ssrn.4081093"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1097\/PAP.0b013e3180ca8b08","article-title":"Immunohistochemistry of INI1 expression: A new tool for old challenges in CNS and soft tissue pathology","volume":"14","author":"Judkins","year":"2007","journal-title":"Adv. Anat. Pathol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1200\/JCO.18.00353","article-title":"Induction Chemotherapy Response as a Guide for Treatment Optimization in Sinonasal Undifferentiated Carcinoma","volume":"37","author":"Amit","year":"2019","journal-title":"J. Clin. Oncol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2396","DOI":"10.1158\/1078-0432.CCR-15-1468","article-title":"SMARCA4\/BRG1 Is a Novel Prognostic Biomarker Predictive of Cisplatin-Based Chemotherapy Outcomes in Resected Non-Small Cell Lung Cancer","volume":"22","author":"Bell","year":"2016","journal-title":"Clin. Cancer Res."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Cooper, G.W., and Hong, A.L. (2022). SMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities. Cancers, 14.","DOI":"10.3390\/cancers14153645"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/path.4912","article-title":"The histone methyltransferase EZH2 is a therapeutic target in small cell carcinoma of the ovary, hypercalcaemic type","volume":"242","author":"Wang","year":"2017","journal-title":"J. Pathol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41467-019-08380-1","article-title":"SMARCA4 loss is synthetic lethal with CDK4\/6 inhibition in non-small cell lung cancer","volume":"10","author":"Xue","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1002\/ijc.31873","article-title":"Inhibition of MYC attenuates tumor cell self-renewal and promotes senescence in SMARCB1-deficient Group 2 atypical teratoid rhabdoid tumors to suppress tumor growth in vivo","volume":"144","author":"Alimova","year":"2019","journal-title":"Int. J. Cancer."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"209","DOI":"10.4143\/crt.2014.46.3.209","article-title":"Regulation and Role of EZH2 in Cancer","volume":"46","author":"Yamaguchi","year":"2014","journal-title":"Cancer Res. Treat."},{"key":"ref_31","unstructured":"Lee, V.H.F. (2026, March 26). Induction Chemotherapy and Tazemetostat for Locally Advanced SMARCB1-Deficient Sinonasal Carcinoma, Available online: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT05151588."},{"key":"ref_32","unstructured":"National Cancer Institute (2026, March 26). Nivolumab and Ipilimumab in Treating Patients with Rare Tumors, Available online: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02834013."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Qi, T., Yang, W., Liu, R., Deng, D., and Liu, X. (2026). SWI\/SNF-associated molecular subtypes reshape tumor microenvironmental features and inform precision therapeutic strategies in bladder cancer. Front. Cell Infect. Microbiol., 16.","DOI":"10.3389\/fcimb.2026.1774929"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1002\/jso.21013","article-title":"Proton radiation therapy for head and neck cancer","volume":"97","author":"Chan","year":"2008","journal-title":"J. Surg. Oncol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ijrobp.2016.02.042","article-title":"Long-Term Outcomes After Proton Beam Therapy for Sinonasal Squamous Cell Carcinoma","volume":"95","author":"Russo","year":"2016","journal-title":"Int. J. Radiat. Oncol. Biol. Phys."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.radonc.2020.05.007","article-title":"Patient-reported outcomes, physician-reported toxicities, and treatment outcomes in a modern cohort of patients with sinonasal cancer treated using proton beam therapy","volume":"148","author":"Pasalic","year":"2020","journal-title":"Radiother. Oncol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1007\/s00428-015-1853-1","article-title":"Reappraisal of sinonasal undifferentiated carcinoma: SMARCB1 (INI1)-deficient sinonasal carcinoma: A single-institution experience","volume":"467","author":"Bell","year":"2015","journal-title":"Virchows Arch."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/8\/2939\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T04:13:49Z","timestamp":1776226429000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/8\/2939"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,13]]},"references-count":37,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["jcm15082939"],"URL":"https:\/\/doi.org\/10.3390\/jcm15082939","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,13]]}}}