{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:47:38Z","timestamp":1788871658635,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:00Z","timestamp":1698278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a diagnostically challenging case of a SMARCA4\u2010deficient undifferentiated tumour to emphasize its potential to mimic other malignant tumours on histology, especially in small biopsies and where rhabdoid morphology is lacking. A 48\u2010year\u2010old man, who was known for chronic obstructive pulmonary disease and polysubstance use, presented with dyspnoea and an anterior mediastinal mass that had grown rapidly over a seven\u2010month period. The rapid growth and location in the anterior mediastinum raised clinical suspicion for lymphoma or a germ cell tumour. Microscopic examination of a transthoracic, ultrasound\u2010guided, core needle biopsy revealed relatively uniform, malignant epithelioid cells with clear cytoplasm, but lacking any rhabdoid features. Tumour necrosis was prominent. The immunohistochemistry panel was negative for lymphoma markers, but positive for SALL4 (a marker typically associated with germ cell tumours), CD34, EMA, and HepPar1, while expression of SMARCA4 and claudin\u20104 was entirely lost. Only focal cytokeratin expression was demonstrated. SMARCB1 (INI1) expression was retained. The diagnosis of SMARCA4\u2010DUT was made based on these findings. Unfortunately, the tumour was already at an advanced stage at diagnosis (stage IVA) and the patient had a poor performance status. He was treated with palliative radiotherapy with no significant improvement in performance status and passed away 3 months after diagnosis. The case highlights the importance of considering SMARCA4\u2010DUT in the differential diagnosis of an undifferentiated, rapidly growing thoracic tumour and the potential for misdiagnosis on a small tissue sample, particularly as rhabdoid morphology may be absent.<\/jats:p>","DOI":"10.1002\/rcr2.1238","type":"journal-article","created":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T06:24:27Z","timestamp":1698387867000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Thoracic <scp>SMARCA4<\/scp>\u2010deficient undifferentiated tumour: Diagnostic challenges and potential for misdiagnosis in small tissue samples"],"prefix":"10.1002","volume":"11","author":[{"given":"Deborah Johanna","family":"Maartens","sequence":"first","affiliation":[{"name":"Division of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences Stellenbosch University  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Saadiq","family":"Moolla","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibusiso","family":"Ndaba","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sucari Susanna Catherina","family":"Vlok","sequence":"additional","affiliation":[{"name":"Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firzana","family":"Hendricks","sequence":"additional","affiliation":[{"name":"Division of Radiation Oncology, Department of Medical Imaging and Clinical Oncology, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coenraad Frederik Nicolaas","family":"Koegelenberg","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0946-2434","authenticated-orcid":false,"given":"Abraham Christoffel","family":"van Wyk","sequence":"additional","affiliation":[{"name":"Division of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences Stellenbosch University  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3399"},{"key":"e_1_2_9_3_1","volume-title":"WHO classification of Tumours editorial board. Thoracic Tumours [Internet]","author":"Yoshida A","year":"2021"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737140.2019.1605905.Remodeling"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.1020875"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-019-06017-x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001188"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtho.2019.10.023"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-017-2148-5"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.1238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T06:37:24Z","timestamp":1698388644000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.1238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,26]]},"references-count":8,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/rcr2.1238"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.1238","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,26]]},"assertion":[{"value":"2023-06-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e01238"}}