在婴儿纤维肉瘤样肿瘤晚期肺转移中发现新的双基因融合。

IF 3.1 3区医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2025-05-01 Epub Date: 2024-07-30 DOI:10.1007/s00428-024-03882-w

Karen Schoedel, Shaymaa Hegazy, Megan L Zilla, Jason Chang, Benjamin A Nacev

{"title":"在婴儿纤维肉瘤样肿瘤晚期肺转移中发现新的双基因融合。","authors":"Karen Schoedel, Shaymaa Hegazy, Megan L Zilla, Jason Chang, Benjamin A Nacev","doi":"10.1007/s00428-024-03882-w","DOIUrl":null,"url":null,"abstract":"The list of potential gene fusions involving sarcomas, and particularly infantile fibrosarcoma-like tumors, continues to expand. The receptor tyrosine kinases are dysregulated in several tumor types, underscoring their roles in neoplasia. In this case presentation, we describe a pulmonary metastasis with two novel gene fusions (FKBP5::PRKCA and in-frame SEPT7::RAF1) occurring at least two decades after the primary tumor developed.","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":"1069-1072"},"PeriodicalIF":3.1000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11779980/pdf/","citationCount":"0","resultStr":"{\"title\":\"Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor.\",\"authors\":\"Karen Schoedel, Shaymaa Hegazy, Megan L Zilla, Jason Chang, Benjamin A Nacev\",\"doi\":\"10.1007/s00428-024-03882-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The list of potential gene fusions involving sarcomas, and particularly infantile fibrosarcoma-like tumors, continues to expand. The receptor tyrosine kinases are dysregulated in several tumor types, underscoring their roles in neoplasia. In this case presentation, we describe a pulmonary metastasis with two novel gene fusions (FKBP5::PRKCA and in-frame SEPT7::RAF1) occurring at least two decades after the primary tumor developed.\",\"PeriodicalId\":23514,\"journal\":{\"name\":\"Virchows Archiv\",\"volume\":\" \",\"pages\":\"1069-1072\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11779980/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Virchows Archiv\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00428-024-03882-w\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Virchows Archiv","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00428-024-03882-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/30 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

涉及肉瘤，特别是婴儿纤维肉瘤样肿瘤的潜在基因融合的清单继续扩大。受体酪氨酸激酶在几种肿瘤类型中失调，强调其在肿瘤中的作用。在本病例报告中，我们描述了在原发肿瘤发生至少20年后发生的两种新型基因融合（FKBP5::PRKCA和框架内SEPT7::RAF1）的肺转移。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

摘要图片

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor.

The list of potential gene fusions involving sarcomas, and particularly infantile fibrosarcoma-like tumors, continues to expand. The receptor tyrosine kinases are dysregulated in several tumor types, underscoring their roles in neoplasia. In this case presentation, we describe a pulmonary metastasis with two novel gene fusions (FKBP5::PRKCA and in-frame SEPT7::RAF1) occurring at least two decades after the primary tumor developed.

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

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.