Liu Shuangai,Tao Ting,Liu Yuanmei,et al.A case study of embryonal rhabdomyosarcoma in children with frontal-parietal lobe metastases[J].Journal of Clinical Pediatric Surgery,2024,(10):981-985.[doi:10.3760/cma.j.cn101785-202404048-015]
儿童胚胎性横纹肌肉瘤伴额顶叶转移1例
- Title:
- A case study of embryonal rhabdomyosarcoma in children with frontal-parietal lobe metastases
- 摘要:
- 横纹肌肉瘤(rhabdomyosarcoma, RMS)是儿童和青少年最常见的软组织肉瘤, 好发于头颈部及泌尿生殖系统, 倾向于通过血液和淋巴管发生淋巴结、肺、胸膜和骨骼转移, 但发生实质性脑部转移的现象极为罕见。本文报告了1例胚胎性横纹肌肉瘤(embryonal RMS, ERMS)伴额顶叶转移患儿的诊治过程, 并应用STAR、STAR-Fusion和CTAT-mutations等软件对该患儿化疗前、化疗后及脑转移组织样本的转录组测序数据进行分析, 发现ARID1B(AT-Rich Interaction Domain 1B)等五个突变基因及PMS2P9(PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 9)-CCDC146(Coiled-Coil Domain Containing 146)等三个融合基因可能在肿瘤脑转移中发挥作用, 为后续脑转移患儿的治疗提供了潜在靶点。
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备注/Memo
收稿日期:2024-4-20。
基金项目:国家自然科学基金(32270853);浙江省尖兵领雁研发攻关计划项目(2024C03181)
通讯作者:王金湖,Email:wjh@zju.edu.cn