{"title":"隆突性皮肤纤维肉瘤与SMARCA4/BRG1缺失:新的分子变化或巧合关联?","authors":"Huiyan Deng, Mingyang Li, Ying Jia, Hanxu Jiang, Keqi Jia, Xiaojie Fan, Yueping Liu","doi":"10.1177/30502098251318875","DOIUrl":null,"url":null,"abstract":"<p><p>Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue sarcoma of the skin, representing less than 1% of all soft tissue sarcomas. Clinically, it is characterized by its indolent nature, localized growth, and low-grade malignant fibrosarcoma features. Here, we present a case of a 40-year-old woman diagnosed with DFSP carrying a deletion in the <i>SMARCA4</i> gene. Following complete tumour resection, no recurrence or new malignancies were observed during the 1-year follow-up period. To our knowledge, cases of DFSP with <i>SMARCA4</i> gene deletions have not been previously documented in the literature. This case contributes to our understanding of the molecular mechanisms underlying DFSP in soft tissue sarcomas, potentially enhancing clinicians' ability to accurately assess patient prognoses.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251318875"},"PeriodicalIF":0.0000,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161884/pdf/","citationCount":"0","resultStr":"{\"title\":\"Dermatofibrosarcoma Protuberans and <i>SMARCA4/BRG1</i> Loss: Novel Molecular Change or Coincidental Association?\",\"authors\":\"Huiyan Deng, Mingyang Li, Ying Jia, Hanxu Jiang, Keqi Jia, Xiaojie Fan, Yueping Liu\",\"doi\":\"10.1177/30502098251318875\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue sarcoma of the skin, representing less than 1% of all soft tissue sarcomas. Clinically, it is characterized by its indolent nature, localized growth, and low-grade malignant fibrosarcoma features. Here, we present a case of a 40-year-old woman diagnosed with DFSP carrying a deletion in the <i>SMARCA4</i> gene. Following complete tumour resection, no recurrence or new malignancies were observed during the 1-year follow-up period. To our knowledge, cases of DFSP with <i>SMARCA4</i> gene deletions have not been previously documented in the literature. This case contributes to our understanding of the molecular mechanisms underlying DFSP in soft tissue sarcomas, potentially enhancing clinicians' ability to accurately assess patient prognoses.</p>\",\"PeriodicalId\":520893,\"journal\":{\"name\":\"Sage open pathology\",\"volume\":\"18 \",\"pages\":\"30502098251318875\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-02-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161884/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sage open pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/30502098251318875\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sage open pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/30502098251318875","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Dermatofibrosarcoma Protuberans and SMARCA4/BRG1 Loss: Novel Molecular Change or Coincidental Association?
Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue sarcoma of the skin, representing less than 1% of all soft tissue sarcomas. Clinically, it is characterized by its indolent nature, localized growth, and low-grade malignant fibrosarcoma features. Here, we present a case of a 40-year-old woman diagnosed with DFSP carrying a deletion in the SMARCA4 gene. Following complete tumour resection, no recurrence or new malignancies were observed during the 1-year follow-up period. To our knowledge, cases of DFSP with SMARCA4 gene deletions have not been previously documented in the literature. This case contributes to our understanding of the molecular mechanisms underlying DFSP in soft tissue sarcomas, potentially enhancing clinicians' ability to accurately assess patient prognoses.