Karen Schoedel, Shaymaa Hegazy, Megan L Zilla, Jason Chang, Benjamin A Nacev
{"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":"<p><p>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.</p>","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}
引用次数: 0
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.
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.
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