Wang Yifei, Li Xiaowei, Yao Chunfang, Zhou Zhou, Liu Wendong, Ni Hengli
Department of Pathology, Children's Hospital of Soochow University, Soochow University, Suzhou, China.
Department of Orthopedic Surgery, Children's Hospital of Soochow University, Soochow University, Suzhou, China.
Case Rep Pathol. 2025 Aug 19;2025:9442676. doi: 10.1155/crip/9442676. eCollection 2025.
With the application of next-generation sequencing (NGS) in soft tissue tumors, gene rearrangement is becoming known to pathologists as a molecular hallmark of spindle cell tumors, and other spindle cell tumors with related kinases are being reported. However, cases of rearranged spindle cell tumors not associated with rearrangements are rarely reported. Here, we describe a case of rearranged spindle cell tumor in a 3-year-old girl who presented with swelling and pain in the arm. Histologically, the tumor consisted of a fascicular arrangement of monomorphic spindle cells infiltrating and growing in adipose and muscle tissue with visible mitotic activity. Immunohistochemistry showed spindle cells negative for CD34, positive for S100 protein, and focal staining for Pan-TRK. fusion was identified by NGS. Fluorescence in situ hybridization (FISH) analysis confirmed the gene rearrangement but did not detect the gene rearrangement. In conclusion, we describe a rare case of CD34-negative, S100-positive spindle cell tumor with fusion.
随着下一代测序（NGS）在软组织肿瘤中的应用，基因重排作为梭形细胞瘤的分子标志正为病理学家所熟知，并且其他伴有相关激酶的梭形细胞瘤也不断被报道。然而，不伴有相关重排的重排性梭形细胞瘤病例鲜有报道。在此，我们描述了一名3岁女童，其因手臂肿胀和疼痛就诊，被诊断为具有重排的梭形细胞瘤。组织学上，肿瘤由单形性梭形细胞呈束状排列组成，浸润并生长于脂肪和肌肉组织中，可见有丝分裂活性。免疫组化显示梭形细胞CD34阴性、S100蛋白阳性、泛TRK局灶性染色阳性。通过NGS鉴定出了融合。荧光原位杂交（FISH）分析证实了基因重排，但未检测到基因重排。总之，我们描述了一例罕见的伴有融合的CD34阴性、S100阳性梭形细胞瘤。
