钙化软骨间充质瘤:临床病理和分子分析。

IF 2.5 4区 医学 Q2 PATHOLOGY
Xiaolong Feng, Suxia Wang, Jiacong Wei, Weihua Li, Shun Wang, Peng Guo, Changyuan Guo, Weiwei Hao, Hongtian Dai, Lihua Gong
{"title":"钙化软骨间充质瘤:临床病理和分子分析。","authors":"Xiaolong Feng, Suxia Wang, Jiacong Wei, Weihua Li, Shun Wang, Peng Guo, Changyuan Guo, Weiwei Hao, Hongtian Dai, Lihua Gong","doi":"10.1136/jcp-2024-209806","DOIUrl":null,"url":null,"abstract":"<p><strong>Aims: </strong>Calcified chondroid mesenchymal neoplasm (CCMN) is a recently identified category of soft tissue neoplasms defined by cartilage or cartilaginous matrix formation and <i>FN1</i> gene fusions. Its rarity and similarities to other soft tissue tumours pose diagnostic challenges. This study aims to deepen understanding of CCMN, highlighting molecular pathology's role in diagnosis to reduce misdiagnosis, overdiagnosis and overtreatment.</p><p><strong>Methods: </strong>We conducted a clinicopathological analysis of five newly identified CCMN cases and reviewed 87 cases documented in PubMed. Next-generation sequencing was used to detect molecular alterations, while clinical, radiological and histopathological features were extensively reviewed.</p><p><strong>Results: </strong>CCMN typically affects adults, presenting as a slow-growing, painless mass in soft tissue. Histologically, CCMN exhibits a chondroid matrix with variable calcification. Molecular analyses in our cases identified <i>FN1::FGFR1</i>, <i>FN1::FGFR2</i> and <i>FN1::TEK</i> fusions. Review of the 87 cases revealed consistent clinical, imaging and molecular profiles, underscoring CCMN's distinct characteristics.</p><p><strong>Conclusions: </strong>CCMN should be considered in the differential diagnosis of soft tissue tumours with chondroid and calcified components. Detecting <i>FN1</i> gene fusions aids in distinguishing CCMN from morphologically similar tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5000,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Calcified chondroid mesenchymal neoplasm: a clinicopathological and molecular analysis.\",\"authors\":\"Xiaolong Feng, Suxia Wang, Jiacong Wei, Weihua Li, Shun Wang, Peng Guo, Changyuan Guo, Weiwei Hao, Hongtian Dai, Lihua Gong\",\"doi\":\"10.1136/jcp-2024-209806\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aims: </strong>Calcified chondroid mesenchymal neoplasm (CCMN) is a recently identified category of soft tissue neoplasms defined by cartilage or cartilaginous matrix formation and <i>FN1</i> gene fusions. Its rarity and similarities to other soft tissue tumours pose diagnostic challenges. This study aims to deepen understanding of CCMN, highlighting molecular pathology's role in diagnosis to reduce misdiagnosis, overdiagnosis and overtreatment.</p><p><strong>Methods: </strong>We conducted a clinicopathological analysis of five newly identified CCMN cases and reviewed 87 cases documented in PubMed. Next-generation sequencing was used to detect molecular alterations, while clinical, radiological and histopathological features were extensively reviewed.</p><p><strong>Results: </strong>CCMN typically affects adults, presenting as a slow-growing, painless mass in soft tissue. Histologically, CCMN exhibits a chondroid matrix with variable calcification. Molecular analyses in our cases identified <i>FN1::FGFR1</i>, <i>FN1::FGFR2</i> and <i>FN1::TEK</i> fusions. Review of the 87 cases revealed consistent clinical, imaging and molecular profiles, underscoring CCMN's distinct characteristics.</p><p><strong>Conclusions: </strong>CCMN should be considered in the differential diagnosis of soft tissue tumours with chondroid and calcified components. Detecting <i>FN1</i> gene fusions aids in distinguishing CCMN from morphologically similar tumours.</p>\",\"PeriodicalId\":15391,\"journal\":{\"name\":\"Journal of Clinical Pathology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-01-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1136/jcp-2024-209806\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/jcp-2024-209806","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

目的:钙化软骨样间充质肿瘤(CCMN)是最近发现的一类软组织肿瘤,以软骨或软骨基质形成和FN1基因融合为特征。它的罕见性和与其他软组织肿瘤的相似性给诊断带来了挑战。本研究旨在加深对CCMN的认识,突出分子病理学在诊断中的作用,减少误诊、过度诊断和过度治疗。方法:我们对5例新发现的CCMN病例进行了临床病理分析,并回顾了PubMed上记录的87例病例。下一代测序用于检测分子改变,同时广泛回顾临床,放射学和组织病理学特征。结果:CCMN通常影响成人,表现为软组织中生长缓慢,无痛的肿块。组织学上,CCMN表现为可变钙化的软骨样基质。在我们的病例中,分子分析确定了FN1::FGFR1, FN1::FGFR2和FN1::TEK融合。对87例病例的回顾显示了一致的临床、影像学和分子特征,强调了CCMN的独特特征。结论:有软骨样和钙化成分的软组织肿瘤应考虑CCMN的鉴别诊断。检测FN1基因融合有助于区分CCMN与形态相似的肿瘤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Calcified chondroid mesenchymal neoplasm: a clinicopathological and molecular analysis.

Aims: Calcified chondroid mesenchymal neoplasm (CCMN) is a recently identified category of soft tissue neoplasms defined by cartilage or cartilaginous matrix formation and FN1 gene fusions. Its rarity and similarities to other soft tissue tumours pose diagnostic challenges. This study aims to deepen understanding of CCMN, highlighting molecular pathology's role in diagnosis to reduce misdiagnosis, overdiagnosis and overtreatment.

Methods: We conducted a clinicopathological analysis of five newly identified CCMN cases and reviewed 87 cases documented in PubMed. Next-generation sequencing was used to detect molecular alterations, while clinical, radiological and histopathological features were extensively reviewed.

Results: CCMN typically affects adults, presenting as a slow-growing, painless mass in soft tissue. Histologically, CCMN exhibits a chondroid matrix with variable calcification. Molecular analyses in our cases identified FN1::FGFR1, FN1::FGFR2 and FN1::TEK fusions. Review of the 87 cases revealed consistent clinical, imaging and molecular profiles, underscoring CCMN's distinct characteristics.

Conclusions: CCMN should be considered in the differential diagnosis of soft tissue tumours with chondroid and calcified components. Detecting FN1 gene fusions aids in distinguishing CCMN from morphologically similar tumours.

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
7.80
自引率
2.90%
发文量
113
审稿时长
3-8 weeks
期刊介绍: Journal of Clinical Pathology is a leading international journal covering all aspects of pathology. Diagnostic and research areas covered include histopathology, virology, haematology, microbiology, cytopathology, chemical pathology, molecular pathology, forensic pathology, dermatopathology, neuropathology and immunopathology. Each issue contains Reviews, Original articles, Short reports, Correspondence and more.
×
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