Supplementary Material for: First female patient with a rare CIC¬-FOXO4 translocated sarcoma – a case report

Small round cell sarcoma is a group of undifferentiated malignancies arising in 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 four times in 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.

小圆细胞肉瘤（Small round cell sarcoma）是一类起源于骨与软组织的未分化恶性肿瘤，以尤因肉瘤（Ewing Sarcoma）为典型代表。近期，世界卫生组织（World Health Organization）推出了新版分类标准，新增了该类肉瘤的一个亚型，命名为CIC重排肉瘤（CIC rearranged sarcoma）。在该亚型中，CIC-FOXO4易位是一种极为罕见的融合变异，目前仅在文献中报道过4例。本文详细阐述了1例由CIC-FOXO4易位驱动的肿瘤患者的病理、临床及分子特征，该患者为46岁女性。