• 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

首例患有罕见CIC-FOXO4易位肉瘤的女性患者:病例报告

First Female Patient with a Rare CIC-FOXO4-Translocated Sarcoma: A Case Report.

作者信息

Babkoff Aryeh, Berner-Wygoda Yael, Diment Judith, Kustanovich Anatoli, Zick Aviad, Katz Daniela, Grinshpun Albert

机构信息

Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

出版信息

Case Rep Oncol. 2023 Sep 19;16(1):954-962. doi: 10.1159/000533519. eCollection 2023 Jan-Dec.

DOI:10.1159/000533519
PMID:37900856
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10601800/
Abstract

Small round cell sarcoma is a group of undifferentiated malignancies arising in the bone and soft tissue, notable for Ewing sarcoma. Recently, a new World Health Organization classification has been introduced, including an additional subset of these sarcomas, named CIC-rearranged sarcoma. Within this group, CIC-FOXO4 translocation is an exceedingly rare fusion that has been reported only 4 times in the literature. Herein, we report in-depth the pathological, clinical, and molecular features of a CIC-FOXO4 translocation-driven tumor in a 46-year-old woman.

摘要

小圆细胞肉瘤是一组起源于骨骼和软组织的未分化恶性肿瘤,尤指尤文肉瘤。最近,世界卫生组织引入了一种新的分类方法,其中包括这些肉瘤的一个额外亚组,称为CIC重排肉瘤。在这一组中,CIC-FOXO4易位是一种极其罕见的融合,在文献中仅报道过4次。在此,我们深入报告了一名46岁女性中由CIC-FOXO4易位驱动的肿瘤的病理、临床和分子特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/3d279650346d/cro-2023-0016-0001-533519_F03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/b8be9480d21f/cro-2023-0016-0001-533519_F01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/5dc681fbf648/cro-2023-0016-0001-533519_F02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/3d279650346d/cro-2023-0016-0001-533519_F03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/b8be9480d21f/cro-2023-0016-0001-533519_F01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/5dc681fbf648/cro-2023-0016-0001-533519_F02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6374/10601800/3d279650346d/cro-2023-0016-0001-533519_F03.jpg

相似文献

1
First Female Patient with a Rare CIC-FOXO4-Translocated Sarcoma: A Case Report.首例患有罕见CIC-FOXO4易位肉瘤的女性患者:病例报告
Case Rep Oncol. 2023 Sep 19;16(1):954-962. doi: 10.1159/000533519. eCollection 2023 Jan-Dec.
2
Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.伴有CIC重排的肉瘤是一种具有侵袭性预后的独特病理实体:115例病例的临床病理和分子研究
Am J Surg Pathol. 2017 Jul;41(7):941-949. doi: 10.1097/PAS.0000000000000846.
3
A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma.一种新型 CIC-FOXO4 基因融合在未分化小圆细胞肉瘤中的作用:一种具有独特遗传学特征的 Ewing 样肉瘤。
Am J Surg Pathol. 2014 Nov;38(11):1571-6. doi: 10.1097/PAS.0000000000000286.
4
ETV4 is a useful marker for the diagnosis of CIC-rearranged undifferentiated round-cell sarcomas: a study of 127 cases including mimicking lesions.ETV4是诊断CIC重排的未分化圆形细胞肉瘤的有用标志物:一项纳入127例病例(包括模仿性病变)的研究
Mod Pathol. 2016 Dec;29(12):1523-1531. doi: 10.1038/modpathol.2016.155. Epub 2016 Aug 26.
5
High-grade undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: emerging entities of soft tissue tumors with unique histopathologic features--a case report and literature review.伴有t(4;19)(q35;q13.1) CIC-DUX4融合的高级别未分化小圆细胞肉瘤:具有独特组织病理学特征的软组织肿瘤新实体——病例报告及文献复习
Am J Case Rep. 2015 Feb 16;16:87-94. doi: 10.12659/AJCR.892551.
6
Clinicopathological features of five cases of CIC::DUX4 positive sarcomas, including literature review.五例 CIC::DUX4 阳性肉瘤的临床病理特征,包括文献复习。
Ann Diagn Pathol. 2023 Aug;65:152153. doi: 10.1016/j.anndiagpath.2023.152153. Epub 2023 May 4.
7
Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, "undifferentiated small round cell tumors". A clinicopathologic, immunophenotypic and molecular analysis.利用新型标志物进行回顾性分析有助于对41例诊断困难的“未分化小圆形细胞肿瘤”进行精确分类。一项临床病理、免疫表型及分子分析。
Ann Diagn Pathol. 2018 Jun;34:1-12. doi: 10.1016/j.anndiagpath.2017.11.011. Epub 2017 Nov 29.
8
Evaluation of ETV4 and WT1 expression in CIC-rearranged sarcomas and histologic mimics.评估 ETV4 和 WT1 在 CIC 重排肉瘤及组织学类似物中的表达。
Mod Pathol. 2016 Nov;29(11):1324-1334. doi: 10.1038/modpathol.2016.140. Epub 2016 Jul 22.
9
A case report of CIC-rearranged undifferentiated small round cell sarcoma in the cerebrum.大脑中CIC重排的未分化小圆细胞肉瘤病例报告。
Diagn Cytopathol. 2016 Oct;44(10):828-32. doi: 10.1002/dc.23520. Epub 2016 Jun 21.
10
[Clinical and morphological characteristics of Ewing's sarcoma and the algorithm for diagnosing undifferentiated round cell sarcomas].[尤因肉瘤的临床与形态学特征及未分化圆形细胞肉瘤的诊断算法]
Arkh Patol. 2023;85(5):13-21. doi: 10.17116/patol20238505113.

引用本文的文献

1
Molecular and therapeutic advancements in Capicua ()-rearranged sarcoma.Capicua()重排肉瘤的分子与治疗进展
Front Cell Dev Biol. 2024 May 31;12:1416697. doi: 10.3389/fcell.2024.1416697. eCollection 2024.

本文引用的文献

1
Expanding the Molecular Diversity of CIC-Rearranged Sarcomas With Novel and Very Rare Partners.扩展 CIC 重排肉瘤的分子多样性,涉及新型和非常罕见的伙伴。
Mod Pathol. 2023 May;36(5):100103. doi: 10.1016/j.modpat.2023.100103. Epub 2023 Jan 21.
2
WEE1 kinase is a therapeutic vulnerability in CIC-DUX4 undifferentiated sarcoma.WEE1 激酶是 CIC-DUX4 未分化肉瘤的治疗靶点。
JCI Insight. 2022 Mar 22;7(6):e152293. doi: 10.1172/jci.insight.152293.
3
Systemic treatments and outcomes in CIC-rearranged Sarcoma: A national multi-centre clinicopathological series and literature review.
CIC 重排肉瘤的系统治疗和结果:全国多中心临床病理系列和文献复习。
Cancer Med. 2022 Apr;11(8):1805-1816. doi: 10.1002/cam4.4580. Epub 2022 Feb 17.
4
The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives.2020 年世界卫生组织软组织肿瘤分类:新闻与展望。
Pathologica. 2021 Apr;113(2):70-84. doi: 10.32074/1591-951X-213. Epub 2020 Nov 3.
5
Function and regulation of the PEA3 subfamily of ETS transcription factors in cancer.ETS转录因子PEA3亚家族在癌症中的功能与调控
Am J Cancer Res. 2020 Oct 1;10(10):3083-3105. eCollection 2020.
6
Regulation and function of capicua in mammals.哺乳动物中 Capicua 的调控与功能。
Exp Mol Med. 2020 Apr;52(4):531-537. doi: 10.1038/s12276-020-0411-3. Epub 2020 Apr 1.
7
Ewing sarcoma and Ewing-like tumors.尤因肉瘤和尤因样肿瘤。
Virchows Arch. 2020 Jan;476(1):109-119. doi: 10.1007/s00428-019-02720-8. Epub 2019 Dec 4.
8
Induces Small Round Cell Sarcomas Distinct from Ewing Sarcoma.诱发与尤因肉瘤不同的小圆细胞肉瘤。
Cancer Res. 2017 Jun 1;77(11):2927-2937. doi: 10.1158/0008-5472.CAN-16-3351. Epub 2017 Apr 12.
9
Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.伴有CIC重排的肉瘤是一种具有侵袭性预后的独特病理实体:115例病例的临床病理和分子研究
Am J Surg Pathol. 2017 Jul;41(7):941-949. doi: 10.1097/PAS.0000000000000846.
10
CIC-rearranged Sarcomas: A Study of 20 Cases and Comparisons With Ewing Sarcomas.CIC重排肉瘤:20例研究及与尤因肉瘤的比较
Am J Surg Pathol. 2016 Mar;40(3):313-23. doi: 10.1097/PAS.0000000000000570.