Abstract
BackgroundMalignant 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.Case reportPreoperative 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.ConclusionThe PI3K-Akt signaling pathway and microRNA-related proteins as targets have extremely high potential value for the diagnosis and treatment of MRTK.
Highlights
Malignant rhabdoid tumor of the kidney (MRTK), a rare type of malignant rhabdoid tumor (MRT), is a highly aggressive tumor that occurs in infants and young children
The aim of this study was to screen new possible targets related to the occurrence and development of MRTK through global detection of RNA level, which can provide new ideas and theoretical basis for the prevention, diagnosis, and treatment of MRTK
Considering that there was no metastasis, the patients were treated with radical nephrectomy
Summary
Malignant rhabdoid tumor of the kidney (MRTK), a rare type of malignant rhabdoid tumor (MRT), is a highly aggressive tumor that occurs in infants and young children. The overall 3-year survival rate in patients with MRTK ranges from 12% to 38.4%; it is the highest in children aged 24 months or older and the lowest in those between 0 and 5 months of age [1, 2]. 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. Case report: Preoperative B-scan ultrasonography and computed tomography (CT) examination in 2 cases suggested nephroblastoma. Both patients were treated with radical nephrectomy. RNA-seq results showed 2203 differential genes (DEGs) in the kidney tissue of children with MRTK compared to normal tissue (p
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