背景:肾脏恶性横纹肌样瘤(MRTK)是一种罕见的肿瘤,缺乏典型的临床表现。在这里,我们提供了2例MRTK患儿的临床资料.此外,我们使用了高通量RNA测序(RNA-seq),GO分析,和KEGG信号通路分析,以检查2例MRTK患者和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。
方法:术前B超及CT检查2例提示肾母细胞瘤。两名患者均接受了根治性肾切除术。手术后,MRTK经病理检查证实。Child1和Child2随后接受了7个疗程和12个疗程的常规化疗,分别。儿童1号随访2年,和2个孩子3.1年没有出现症状。RNA-seq成果显示MRTK患儿肾组织中2203个差别基因(DEGs)较正常组织(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microRNA相关蛋白。
结论:以PI3K-Akt信号通路和microRNA相关蛋白为靶点,对MRTK的诊断和治疗具有极高的潜在价值。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: The PI3K-Akt signaling pathway and microRNA-related proteins as targets have extremely high potential value for the diagnosis and treatment of MRTK.