{"title":"SMARCB1/INI1缺陷型胸部未分化肿瘤：病例报告和文献综述。","authors":"Moreno Zagni, Alessandro Marando, Mariachiara Negrelli, Calogero Lauricella, Valentina Motta, Giulia Paglino, Silvio Veronese, Emanuele Valtorta, Emanuela Bonoldi, Giuseppe Pelosi","doi":"10.32074/1591-951X-955","DOIUrl":null,"url":null,"abstract":"<p><p>The 5th WHO classification of thoracic tumours includes thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) among the \"other epithelial tumours of the lung\" chapter. Herein, we present a case of undifferentiated thoracic neoplasm with retention of SMARCA4 expression, lack of NUT fusion protein and loss of SMARCB1/INI1 expression. After presenting the clinical and pathological features of the tumour, we carried out a review of the literature on the same topic. Albeit very rare, we believe this entity should be included in the heterogeneous group of undifferentiated neoplasms of the thorax.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 3","pages":"163-169"},"PeriodicalIF":4.4000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447651/pdf/","citationCount":"0","resultStr":"{\"title\":\"SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature.\",\"authors\":\"Moreno Zagni, Alessandro Marando, Mariachiara Negrelli, Calogero Lauricella, Valentina Motta, Giulia Paglino, Silvio Veronese, Emanuele Valtorta, Emanuela Bonoldi, Giuseppe Pelosi\",\"doi\":\"10.32074/1591-951X-955\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The 5th WHO classification of thoracic tumours includes thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) among the \\\"other epithelial tumours of the lung\\\" chapter. Herein, we present a case of undifferentiated thoracic neoplasm with retention of SMARCA4 expression, lack of NUT fusion protein and loss of SMARCB1/INI1 expression. After presenting the clinical and pathological features of the tumour, we carried out a review of the literature on the same topic. Albeit very rare, we believe this entity should be included in the heterogeneous group of undifferentiated neoplasms of the thorax.</p>\",\"PeriodicalId\":45893,\"journal\":{\"name\":\"PATHOLOGICA\",\"volume\":\"116 3\",\"pages\":\"163-169\"},\"PeriodicalIF\":4.4000,\"publicationDate\":\"2024-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447651/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PATHOLOGICA\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32074/1591-951X-955\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-955","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature.
The 5th WHO classification of thoracic tumours includes thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) among the "other epithelial tumours of the lung" chapter. Herein, we present a case of undifferentiated thoracic neoplasm with retention of SMARCA4 expression, lack of NUT fusion protein and loss of SMARCB1/INI1 expression. After presenting the clinical and pathological features of the tumour, we carried out a review of the literature on the same topic. Albeit very rare, we believe this entity should be included in the heterogeneous group of undifferentiated neoplasms of the thorax.
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