We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare PDGFRA::USP8 gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a PDGFRA::USP8 gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.

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具有罕见 PDGFRA::USP8 基因融合的儿科原发性心脏梭形细胞肿瘤：病例报告

我们报告了一例原发性心脏梭形细胞肿瘤，其组织学特征与 3 岁男孩罕见的 PDGFRA::USP8 基因融合有关。患者出现较大的心脏肿块，主要位于右心室，起源于室间隔。肿块被切除，切缘严重为负。病理学显示一种未分类的梭形细胞肿瘤，具有 PDGFRA::USP8 基因融合。这种基因融合之前在医学文献中只报道过两次，一次是在儿科心脏肉瘤中，另一次是在成年女性的腹部软组织肿瘤中。患者生存状况良好，切除后 11 个月没有复发迹象。