CIC-DUX4 Rearranged Sarcoma Presenting in the Skin: Case Report

被引：0
|
作者：
Amagai, Ryo [1 ]
Fujimura, Taku [1 ]
Hashimoto, Akira [1 ]
Yoshida, Shinichirou [2 ]
Asano, Yoshihide [1 ]
机构：
[1] Tohoku Univ, Grad Sch Med, Dept Dermatol, Sendai, Miyagi, Japan
[2] Tohoku Univ, Grad Sch Med, Dept Orthoped Surg, Sendai, Miyagi, Japan
来源：
CASE REPORTS IN ONCOLOGY | 2024年 / 17卷 / 01期
关键词：
CIC-rearranged sarcoma; CIC-DUX4 fusion gene; CD99; WT1; Genomic panel testing;
D O I：
10.1159/000539501
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Introduction: Capicua transcriptional repressor (CIC)-DUX4 rearranged sarcoma is a subtype of CIC-rearranged sarcomas composed of undifferentiated Wilms' tumor 1 (WT1)(+), CD99(+) round cells with recurrent CIC gene rearrangement. The diagnosis of CIC-rearranged sarcoma remains challenging, and the prognosis of CIC-rearranged sarcomas is poor. Case Presentation: In this report, we described a case of CIC-DUX4 rearranged sarcoma presenting in the skin, expressing WT1 and CD99 in a dot-like pattern. In addition, the assessment of genomic alterations using genome panel testing was useful to confirm the accurate diagnosis. Conclusion: Our present case suggests that widespread use of genomic panel testing in the future may lead to early treatment and improve the prognosis of CIC-rearranged sarcomas. (c) 2024 The Author(s). Published by S. Karger AG, Basel
引用
收藏
页码：681 / 685
页数：5
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