具有TFCP2重排的上皮样和梭形横纹肌肉瘤（ES-RMS）是一种罕见的横纹肌肉瘤变异体，由上皮样和梭形细胞组成，由于其表现出极其恶劣的预后且容易误诊为其他上皮样或梭形细胞肿瘤而最近才被发现。两位作者根据包含和排除标准对Pubmed在线截至2022年7月1日的英文文献进行了系统综述，报告了一例ES-RMS携带TFCP2重排。我们报告了一个在30多岁的女性身上患有ES-RMS的罕见病例，肿瘤细胞高度免疫阳性表达CK（AE1/ AE3），部分表达ALK蛋白。意外的是，肿瘤显示TFCP2重排，EWSR1和ROS1基因副本数增加和MET基因突变共存。此外，基因突变谱的下一代测序揭示了第7染色体上MET外显子14突变的频繁发生（大多数为C > T非同义SNV），第6染色体上ROS1的外显子42则显示高达57.54%的频繁G > T突变。此外，未检测到MyoD1突变或基因融合。此外，患者表现出高的肿瘤突变负担（TMB），高达14.11个/Mb。最后，正如包括我们的病例在内的许多ES-RMS病例出现了局部进展或转移，与上皮样横纹肌肉瘤（中位生存时间为10个月）相似，ES-RMS表现出更具侵袭性的行为和恶劣的预后（中位生存时间为17个月）而不是梭形细胞/硬化性横纹肌肉瘤（中位生存时间为65个月）。 具有TFCP2重排的ES-RMS是一种罕见的恶性肿瘤，容易与其他上皮样或梭形细胞肿瘤混淆，除TFCP2重排外，它可能还携带其他基因突变，如MET突变、EWSR1和ROS1基因副本数增加、高TMB。最重要的是，它可能表现出广泛的转移，具有非常不良的预后。 ©2023。作者。

Epithelioid and spindle rhabdomyosarcoma (ES-RMS) with TFCP2 rearrangement is a recently discovered rare variant of rhabdomyosarcoma composed of epithelioid and spindle cells, because it shows extraordinarily adverse prognosis and is easily misdiagnosed as other epithelioid or spindle cell tumors.A rare case of ES-RMS with TFCP2 rearrangement was presented and English literatures in Pubmed online up to 01 July 2022 were gathered by two authors for a systematic review according to the inclusion and exclusion criteria.We report a case of ES-RMS in an early 30s-years-old female, the neoplastic cells are remarkably immunoreactive with CK(AE1/AE3), and partially with ALK protein. Unexpectedly, the tumor shows TFCP2 rearrangement with coexistence of increased copy numbers of EWSR1 and ROS1 gene and MET gene mutation. Besides, Next-generation sequencing for genetic mutational profiling revealed frequent MET exon14 mutations in chromosome 7, most of which are C > T nonsynonymous SNV, and exon42 of ROS1 in chromosome 6 showed frequent G > T mutation up to 57.54%. In addition, neither MyoD1 mutation nor gene fusions were detected. Moreover, the patient shows high tumor mutational burden (TMB) up to 14.11 counts/Mb. Finally, as many cases of ES-RMS including our case had local progression or metastasis, we find, similar to epithelioid rhabdomyosarcoma (median survival time is 10 month), ES-RMS shows a more aggressive behavior and adverse prognosis (median survival time is 17 month) than spindle cell/sclerosing rhabdomyosarcoma (median survival time is 65 month) according previous studies.ES-RMS with TFCP2 rearrangement is a rare malignant tumor and easily confused with other epithelioid or spindle cell tumors, it may harbor additional gene alteration in addition to TFCP2 rearrangement, such as MET mutation, increased copy numbers of EWSR1 and ROS1 gene, high TMB. Most importantly, it may show very poor outcome with extensive metastasis.© 2023. The Author(s).