Supplementary Material for: CIC-DUX4 rearranged sarcoma presenting in the skin: Case report.

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.

引言：Capicua转录阻遏蛋白（Capicua transcriptional repressor, CIC）-DUX4重排肉瘤是CIC重排肉瘤的一个亚型，由未分化的肾母细胞瘤1（Wilms’ Tumor 1, WT1）阳性、CD99阳性的圆形细胞构成，伴复发性CIC基因重排。CIC重排肉瘤的诊断仍颇具挑战，且该类肉瘤的预后较差。
病例报告：本病例报告描述1例发生于皮肤的CIC-DUX4重排肉瘤，其肿瘤细胞WT1与CD99呈点状阳性表达。此外，通过基因组panel检测（genome panel testing）评估基因组变异，有助于明确准确诊断。
结论：本病例提示，未来若广泛应用基因组panel检测，或可实现CIC重排肉瘤的早期治疗，改善其预后。