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?

Sage open pathology Pub Date : 2025-02-11 eCollection Date: 2025-01-01 DOI:10.1177/30502098251318875
Huiyan Deng, Mingyang Li, Ying Jia, Hanxu Jiang, Keqi Jia, Xiaojie Fan, Yueping Liu
{"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}
引用次数: 0

摘要

隆突性皮肤纤维肉瘤(DFSP)是一种罕见的、生长缓慢的皮肤软组织肉瘤,占所有软组织肉瘤的不到1%。临床表现为无痛性、局部生长、低度恶性纤维肉瘤特征。在这里,我们提出了一个40岁的女性诊断为DFSP携带SMARCA4基因缺失的病例。肿瘤完全切除后,随访1年无复发及新发恶性肿瘤。据我们所知,以前文献中没有记录过伴有SMARCA4基因缺失的DFSP病例。该病例有助于我们理解软组织肉瘤中DFSP的分子机制,有可能提高临床医生准确评估患者预后的能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信