Ancillary Tools for the Diagnosis of CIC-Rearranged Sarcoma: A Comprehensive Review

IF 1.6 4区 医学 Q3 DERMATOLOGY
Jeffrey M. Cloutier, Rami N. Al-Rohil, Rajiv M. Patel, Jennifer S. Ko, Konstantinos Linos
{"title":"Ancillary Tools for the Diagnosis of CIC-Rearranged Sarcoma: A Comprehensive Review","authors":"Jeffrey M. Cloutier,&nbsp;Rami N. Al-Rohil,&nbsp;Rajiv M. Patel,&nbsp;Jennifer S. Ko,&nbsp;Konstantinos Linos","doi":"10.1111/cup.14792","DOIUrl":null,"url":null,"abstract":"<p>\n <i>CIC</i>-rearranged sarcoma is a rare and aggressive undifferentiated round cell sarcoma that presents significant diagnostic challenges due to its histologic overlap with other round cell sarcomas. This review, conducted on behalf of the American Society of Dermatopathology Appropriate Use Criteria Committee (soft tissue subgroup), provides an overview of current immunohistochemical, cytogenetic, and molecular tests used to support the diagnosis of <i>CIC</i>-rearranged sarcoma. This comprehensive analysis included 36 studies, encompassing 436 <i>CIC</i>-rearranged sarcomas. The immunohistochemical markers, CD99 (typically non-diffuse), nuclear WT1, ETV4, and DUX4, were found to be relatively highly sensitive for <i>CIC</i>-rearranged sarcoma (CD99: 87%, WT1: 83%, ETV4: 85%, DUX4: 97%). However, the specificity of these markers is variable, with CD99 being highly non-specific, while WT1 (81%–90%), ETV4 (95%), and DUX4 (100%) offering greater specificity. <i>CIC</i> break-apart FISH can be a helpful and cost-effective assay for detection of <i>CIC</i>-rearrangements, but has a false-negative rate that ranges from 26% to 43%. Next-generation sequence RNA fusion analysis also carries a risk of false negatives, which may be partly mitigated through manual data review. Ultimately, an accurate diagnosis of <i>CIC</i>-rearranged sarcoma requires careful morphologic assessment in combination with immunohistochemical studies and cytogenetics/molecular assays.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"324-331"},"PeriodicalIF":1.6000,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14792","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Cutaneous Pathology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cup.14792","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

CIC-rearranged sarcoma is a rare and aggressive undifferentiated round cell sarcoma that presents significant diagnostic challenges due to its histologic overlap with other round cell sarcomas. This review, conducted on behalf of the American Society of Dermatopathology Appropriate Use Criteria Committee (soft tissue subgroup), provides an overview of current immunohistochemical, cytogenetic, and molecular tests used to support the diagnosis of CIC-rearranged sarcoma. This comprehensive analysis included 36 studies, encompassing 436 CIC-rearranged sarcomas. The immunohistochemical markers, CD99 (typically non-diffuse), nuclear WT1, ETV4, and DUX4, were found to be relatively highly sensitive for CIC-rearranged sarcoma (CD99: 87%, WT1: 83%, ETV4: 85%, DUX4: 97%). However, the specificity of these markers is variable, with CD99 being highly non-specific, while WT1 (81%–90%), ETV4 (95%), and DUX4 (100%) offering greater specificity. CIC break-apart FISH can be a helpful and cost-effective assay for detection of CIC-rearrangements, but has a false-negative rate that ranges from 26% to 43%. Next-generation sequence RNA fusion analysis also carries a risk of false negatives, which may be partly mitigated through manual data review. Ultimately, an accurate diagnosis of CIC-rearranged sarcoma requires careful morphologic assessment in combination with immunohistochemical studies and cytogenetics/molecular assays.

Abstract Image

诊断cic重排肉瘤的辅助工具:综述。
cic重排肉瘤是一种罕见的侵袭性未分化圆细胞肉瘤,由于其组织学上与其他圆细胞肉瘤重叠,对诊断提出了重大挑战。本综述是代表美国皮肤病理学会适当使用标准委员会(软组织亚组)进行的,概述了目前用于支持cic重排肉瘤诊断的免疫组织化学、细胞遗传学和分子检测。这项综合分析包括36项研究,包括436例cic重排肉瘤。免疫组织化学标志物CD99(通常为非弥漫性)、核WT1、ETV4和DUX4对dic重排肉瘤相对高度敏感(CD99: 87%, WT1: 83%, ETV4: 85%, DUX4: 97%)。然而,这些标志物的特异性是可变的,CD99高度非特异性,而WT1(81%-90%)、ETV4(95%)和DUX4(100%)具有更高的特异性。CIC分离FISH是一种有效且具有成本效益的检测CIC重排的方法,但其假阴性率在26%至43%之间。下一代序列RNA融合分析也有假阴性的风险,这可以通过人工数据审查部分减轻。最终,cic重排肉瘤的准确诊断需要仔细的形态学评估,结合免疫组织化学研究和细胞遗传学/分子分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
×
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