• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

遗传性多发性骨软骨瘤伴巨大骨软骨瘤恶变为软骨肉瘤。

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma.

作者信息

Masino Federica, Montatore Manuela, Carpentiere Rossella, Balbino Marina, Gifuni Rossella, Fascia Giacomo, Guglielmi Giuseppe

机构信息

Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Viale L. Pinto 1, 71121, Foggia , Italy.

Radiology Unit, "Dimiccoli" Hospital, Viale Ippocrate 15, 70051, Barletta, Italy.

出版信息

Radiol Case Rep. 2024 May 3;19(8):2943-2949. doi: 10.1016/j.radcr.2024.04.012. eCollection 2024 Aug.

DOI:10.1016/j.radcr.2024.04.012
PMID:38737181
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11087689/
Abstract

We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh. Hereditary multiple exostoses is a rare genetic disorder characterized by multiple osteochondromas. Malignant transformation to chondrosarcoma of a pre-existing osteochondroma is a possible significant manifestation of this hereditary syndrome. Imaging modalities such as X-ray, Ultrasound, and computed tomography play a crucial role in the diagnosis and management of these patients, as described in this case.

摘要

我们报告一例遗传性多发性骨软骨瘤恶变成为软骨肉瘤的病例，患者为一名女性，主诉右大腿肿大及疼痛。遗传性多发性骨软骨瘤是一种罕见的遗传性疾病，其特征为多发性骨软骨瘤。既往存在的骨软骨瘤恶变为软骨肉瘤是这种遗传性综合征可能出现的重要表现。如本病例所述，X线、超声和计算机断层扫描等影像学检查手段在这些患者的诊断和治疗中起着关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/60a0a4231218/gr8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/7a137cc65b52/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/3489bbb0916e/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/160b1902f386/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/32d116c8a36c/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/cb18f3254528/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/042777332d2d/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/e0781fc9ccb0/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/60a0a4231218/gr8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/7a137cc65b52/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/3489bbb0916e/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/160b1902f386/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/32d116c8a36c/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/cb18f3254528/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/042777332d2d/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/e0781fc9ccb0/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4775/11087689/60a0a4231218/gr8.jpg

相似文献

1
Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma.遗传性多发性骨软骨瘤伴巨大骨软骨瘤恶变为软骨肉瘤。
Radiol Case Rep. 2024 May 3;19(8):2943-2949. doi: 10.1016/j.radcr.2024.04.012. eCollection 2024 Aug.
2
Secondary Chondrosarcoma of the Lumbosacral Region: Are any Bones Spared in the Multiple Hereditary Exostoses?腰骶部继发性软骨肉瘤：多发性遗传性骨软骨瘤中是否有骨骼幸免？
J Clin Diagn Res. 2012 Dec;6(10):1778-80. doi: 10.7860/JCDR/2012/4241.2611. Epub 2012 Dec 15.
3
Bilateral Scapulothoracic Osteochondromas in a Patient With Hereditary Multiple Exostosis: A Case Report and Review of the Literature.一名遗传性多发性骨软骨瘤患者的双侧肩胛胸壁骨软骨瘤：病例报告及文献复习
Orthop Rev (Pavia). 2016 Sep 19;8(3):6501. doi: 10.4081/or.2016.6501.
4
An update on the imaging of diaphyseal aclasis.骨干骺端离断症的影像学更新。
Skeletal Radiol. 2021 Oct;50(10):1941-1962. doi: 10.1007/s00256-021-03770-3. Epub 2021 Apr 1.
5
[Osteochondroma and multiple osteochondromas: recommendations on the diagnostics and follow-up with special consideration to the occurrence of secondary chondrosarcoma].[骨软骨瘤和多发性骨软骨瘤：关于诊断及随访的建议，特别考虑继发性软骨肉瘤的发生情况]
Radiologe. 2013 Dec;53(12):1125-36. doi: 10.1007/s00117-013-2571-9.
6
Chondrosarcoma secondary to hereditary multiple osteochondromas with spinal cord compression: A case report and systematic review.继发于遗传性多发性骨软骨瘤并伴有脊髓受压的软骨肉瘤：一例报告及系统评价
Surg Neurol Int. 2023 Nov 3;14:387. doi: 10.25259/SNI_797_2023. eCollection 2023.
7
[Clinical problems in multiple osteochondroma].[多发性骨软骨瘤的临床问题]
Ned Tijdschr Geneeskd. 2012;156(11):A4254.
8
Giant costal osteochondroma in a man with multiple exostoses.男性多发性外生骨疣患者的巨大肋软骨瘤。
Ann Thorac Surg. 2013 Aug;96(2):675-7. doi: 10.1016/j.athoracsur.2012.12.007.
9
Sarcomatous Transformation of Recurrent Scapular Osteochondroma in a Patient with the Hereditary Multiple Osteochondromas: A Case Report and Literature Review.一名患有遗传性多发性骨软骨瘤患者复发性肩胛骨肉瘤样转变：病例报告及文献综述
Cureus. 2019 Dec 6;11(12):e6308. doi: 10.7759/cureus.6308.
10
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.多发性骨软骨瘤中的继发外周软骨肉瘤：回顾性单机构病例系列。
Orphanet J Rare Dis. 2024 Feb 13;19(1):63. doi: 10.1186/s13023-023-03006-8.

本文引用的文献

1
Classification of Chondrosarcoma: From Characteristic to Challenging Imaging Findings.软骨肉瘤的分类：从特征性影像表现到具有挑战性的影像发现
Cancers (Basel). 2023 Mar 10;15(6):1703. doi: 10.3390/cancers15061703.
2
Hereditary multiple exostoses: A case report and literature review.遗传性多发性骨软骨瘤：病例报告及文献综述。
SAGE Open Med Case Rep. 2022 Jun 7;10:2050313X221103732. doi: 10.1177/2050313X221103732. eCollection 2022.
3
The 2020 WHO Classification: What's New in Soft Tissue Tumor Pathology?2020 年世卫组织分类：软组织肿瘤病理学的新变化？
Am J Surg Pathol. 2021 Jan;45(1):e1-e23. doi: 10.1097/PAS.0000000000001552.
4
Hereditary Multiple Exostoses: Current Insights.遗传性多发性骨软骨瘤：当前见解
Orthop Res Rev. 2019 Dec 13;11:199-211. doi: 10.2147/ORR.S183979. eCollection 2019.
5
Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model.遗传性多发性骨软骨瘤中的软骨肉瘤转变：一项系统评价及一种拟议筛查模型的临床与成本效益分析
J Bone Oncol. 2018 Oct 4;13:114-122. doi: 10.1016/j.jbo.2018.09.011. eCollection 2018 Nov.
6
Osteoblastic Osteosarcoma Arising beneath an Osteochondroma in an 11-Year-Old Male with Multiple Hereditary Exostoses.一名患有多发性遗传性骨软骨瘤的11岁男性，其骨软骨瘤下方发生成骨性骨肉瘤。
Case Rep Orthop. 2018 Jul 12;2018:8280415. doi: 10.1155/2018/8280415. eCollection 2018.
7
Multimodality imaging features of hereditary multiple exostoses.遗传性多发性外生骨疣的多模态影像学特征。
Br J Radiol. 2013 Oct;86(1030):20130398. doi: 10.1259/bjr.20130398. Epub 2013 Sep 4.
8
Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.遗传性多发性骨软骨瘤的疾病严重程度及恶变风险。一项基因型-表型研究。
J Bone Joint Surg Br. 2004 Sep;86(7):1041-6. doi: 10.1302/0301-620x.86b7.14815.
9
Genotype-phenotype correlation in hereditary multiple exostoses.遗传性多发性骨软骨瘤的基因型-表型相关性
J Med Genet. 2001 Jul;38(7):430-4. doi: 10.1136/jmg.38.7.430.
10
The origins of osteochondromas and enchondromas. A histopathologic study.骨软骨瘤和内生软骨瘤的起源。一项组织病理学研究。
Clin Orthop Relat Res. 1983 Apr(174):264-84.