{"title":"胸部缺乏smarca4的未分化肿瘤向鳞状细胞癌转化1例报告。","authors":"Heng You, Yuanyue Yi, Ran Wang, Jiayu Li, Zhi Xu","doi":"10.1002/rcr2.70338","DOIUrl":null,"url":null,"abstract":"<p><p>Thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-dUT) is a rare and highly aggressive malignant tumour with poor response to conventional chemotherapy and a poor prognosis, for which there is currently no standard treatment. This article details a case of SMARCA4-dUT in which next-generation sequencing (NGS) revealed a frameshift mutation in SMARCA4 (N259Tfs44), along with high PD-L1 expression (tumour proportion score, TPS 90%) and a high tumour mutational burden (TMB, 24.58 mutations/Mb). The patient achieved a progression-free survival (PFS) of over 32 months following treatment with pembrolizumab combined with conventional chemotherapy. However, the tumour eventually recurred and transformed into SMARCA4-deficient squamous cell carcinoma (SMARCA4-dSCC). To our knowledge, this is the first reported case of histological transformation in SMARCA4-dUT. Immunotherapy may represent a potential treatment option for SMARCA4-dUT, particularly in patients with high TMB and PD-L1 expression.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"13 9","pages":"e70338"},"PeriodicalIF":0.8000,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446079/pdf/","citationCount":"0","resultStr":"{\"title\":\"Transformation of Thoracic SMARCA4-Deficient Undifferentiated Tumour to Squamous Cell Carcinoma: A Case Report.\",\"authors\":\"Heng You, Yuanyue Yi, Ran Wang, Jiayu Li, Zhi Xu\",\"doi\":\"10.1002/rcr2.70338\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-dUT) is a rare and highly aggressive malignant tumour with poor response to conventional chemotherapy and a poor prognosis, for which there is currently no standard treatment. This article details a case of SMARCA4-dUT in which next-generation sequencing (NGS) revealed a frameshift mutation in SMARCA4 (N259Tfs44), along with high PD-L1 expression (tumour proportion score, TPS 90%) and a high tumour mutational burden (TMB, 24.58 mutations/Mb). The patient achieved a progression-free survival (PFS) of over 32 months following treatment with pembrolizumab combined with conventional chemotherapy. However, the tumour eventually recurred and transformed into SMARCA4-deficient squamous cell carcinoma (SMARCA4-dSCC). To our knowledge, this is the first reported case of histological transformation in SMARCA4-dUT. Immunotherapy may represent a potential treatment option for SMARCA4-dUT, particularly in patients with high TMB and PD-L1 expression.</p>\",\"PeriodicalId\":45846,\"journal\":{\"name\":\"Respirology Case Reports\",\"volume\":\"13 9\",\"pages\":\"e70338\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-09-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446079/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Respirology Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1002/rcr2.70338\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/9/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Respirology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/rcr2.70338","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/9/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
Transformation of Thoracic SMARCA4-Deficient Undifferentiated Tumour to Squamous Cell Carcinoma: A Case Report.
Thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-dUT) is a rare and highly aggressive malignant tumour with poor response to conventional chemotherapy and a poor prognosis, for which there is currently no standard treatment. This article details a case of SMARCA4-dUT in which next-generation sequencing (NGS) revealed a frameshift mutation in SMARCA4 (N259Tfs44), along with high PD-L1 expression (tumour proportion score, TPS 90%) and a high tumour mutational burden (TMB, 24.58 mutations/Mb). The patient achieved a progression-free survival (PFS) of over 32 months following treatment with pembrolizumab combined with conventional chemotherapy. However, the tumour eventually recurred and transformed into SMARCA4-deficient squamous cell carcinoma (SMARCA4-dSCC). To our knowledge, this is the first reported case of histological transformation in SMARCA4-dUT. Immunotherapy may represent a potential treatment option for SMARCA4-dUT, particularly in patients with high TMB and PD-L1 expression.
期刊介绍：
Respirology Case Reports is an open-access online journal dedicated to the publication of original clinical case reports, case series, clinical images and clinical videos in all fields of respiratory medicine. The Journal encourages the international exchange between clinicians and researchers of experiences in diagnosing and treating uncommon diseases or diseases with unusual presentations. All manuscripts are peer-reviewed through a streamlined process that aims at providing a rapid turnaround time from submission to publication.
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