Zhanghuang Chenghao, Chen Shuo, Li Li, Yang Zhen, Xie Yucheng, Li Jiwei, Tang Haoyu, He Xiaoli, Dong Liuyi, Yan Bing
Department of Urology, Kunming Children's Hospital, Kunming, China.
Department of Pharmacology, Anhui Medical University, Hefei, China.
Front Oncol. 2021 Mar 30;11:659709. doi: 10.3389/fonc.2021.659709. eCollection 2021.
Malignant rhabdoid tumor of the kidney (MRTK) is a rare type of tumor that lacks typical clinical manifestations. Herein, we presented clinical data of 2 children with MRTK. In addition, we used a high-throughput RNA-sequencing (RNA-seq), GO analysis, and KEGG signaling pathway analysis to examine gene expression differences at the transcripts level between 2 patients with MRTK and 3 patients with non-tumor diseases without other symptoms.
Preoperative B-scan ultrasonography and computed tomography (CT) examination in 2 cases suggested nephroblastoma. Both patients were treated with radical nephrectomy. After the operation, MRTK was confirmed by pathological examination. Child 1 and Child 2 then received 7 courses and 12 courses of regular chemotherapy, respectively. Child 1 was followed up for 2 years, and Child 2 for 3.1 years without showing symptoms. RNA-seq results showed 2203 differential genes (DEGs) in the kidney tissue of children with MRTK compared to normal tissue (p <0.01). GO analysis suggested that most DEGs participate in protein binding. KEGG results showed that the DEGs were mainly involved in the PI3K-Akt signaling pathway and microRNA-related proteins.
The PI3K-Akt signaling pathway and microRNA-related proteins as targets have extremely high potential value for the diagnosis and treatment of MRTK.
肾恶性横纹肌样瘤（MRTK）是一种罕见的肿瘤类型，缺乏典型的临床表现。在此，我们报告了2例MRTK患儿的临床资料。此外，我们使用高通量RNA测序（RNA-seq）、基因本体（GO）分析和京都基因与基因组百科全书（KEGG）信号通路分析，来检测2例MRTK患者与3例无其他症状的非肿瘤疾病患者在转录水平上的基因表达差异。
2例患者术前行B超和计算机断层扫描（CT）检查提示肾母细胞瘤。2例患者均接受了根治性肾切除术。术后经病理检查确诊为MRTK。患儿1和患儿2随后分别接受了7个疗程和12个疗程的常规化疗。患儿1随访2年，患儿2随访3.1年，均无症状。RNA-seq结果显示，与正常组织相比，MRTK患儿肾组织中有2203个差异基因（DEGs）（p<0.01）。GO分析表明，大多数DEGs参与蛋白质结合。KEGG结果显示，DEGs主要参与PI3K-Akt信号通路和微小RNA相关蛋白。
以PI3K-Akt信号通路和微小RNA相关蛋白为靶点，对MRTK的诊断和治疗具有极高的潜在价值。
