小儿原发性心脏纺锤形细胞肿瘤伴有罕见的 PDGFRA::USP8 基因融合:病例报告。

IF 1.3 4区 医学 Q3 PATHOLOGY
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-02-24 DOI:10.1177/10935266231221903
Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen
{"title":"小儿原发性心脏纺锤形细胞肿瘤伴有罕见的 PDGFRA::USP8 基因融合:病例报告。","authors":"Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen","doi":"10.1177/10935266231221903","DOIUrl":null,"url":null,"abstract":"<p><p>We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare <i>PDGFRA::USP8</i> gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a <i>PDGFRA::USP8</i> gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340235/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report.\",\"authors\":\"Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen\",\"doi\":\"10.1177/10935266231221903\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare <i>PDGFRA::USP8</i> gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a <i>PDGFRA::USP8</i> gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.</p>\",\"PeriodicalId\":54634,\"journal\":{\"name\":\"Pediatric and Developmental Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340235/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric and Developmental Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/10935266231221903\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric and Developmental Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10935266231221903","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/24 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

我们报告了一例原发性心脏纺锤形细胞肿瘤病例,该肿瘤具有相关的组织学特征和罕见的 PDGFRA::USP8 基因融合,患者是一名 3 岁男孩。患者的心脏肿块主要位于右心室,起源于室间隔。手术切除了肿块,肿块边缘呈阴性。病理结果显示,这是一种未分类的纺锤形细胞肿瘤,具有 PDGFRA::USP8 基因融合。这种基因融合以前只在医学文献中报道过两次,一次是在小儿心脏肉瘤中,另一次是在一名成年女性的腹部软组织肿瘤中。患者在切除术后 11 个月仍生存良好,无复发迹象。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report.

We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare PDGFRA::USP8 gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a PDGFRA::USP8 gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.

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
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
×
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:481959085
Book学术官方微信