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

Ryo Amagai; Taku Fujimura; Akira Hashimoto; Shinichirou Yoshida; Yoshihide Asano

doi:10.1159/000539501

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

Case Rep Oncol. 2024 Jun 20;17(1):681-685. doi: 10.1159/000539501. eCollection 2024 Jan-Dec.

Authors

Ryo Amagai¹, Taku Fujimura¹, Akira Hashimoto¹, Shinichirou Yoshida², Yoshihide Asano¹

Affiliations

¹ Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
² Department of Orthopedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Abstract

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.

Keywords: CD99; CIC-DUX4 fusion gene; CIC-rearranged sarcoma; Genomic panel testing; WT1.

Publication types

Case Reports

Grants and funding

There is no funding source to declare for this study.