title: Circulating serum miRNAs as potential biomarkers for nephroblastoma.
abstract: BACKGROUND
  Nephroblastoma (or Wilms tumor-WT) is the most common childhood kidney cancer. In Europe, nephroblastoma is treated with preoperative chemotherapy without histological confirmation by biopsy. Therefore, minimal-invasive diagnostic markers confirming nephroblastoma diagnosis are highly warranted.
  
  
  METHODS
  In our study, we aim to identify circulating miRNAs with diagnostic potential for differentiating nephroblastoma from controls. We determined the level of 19 miRNAs in serum of 32 patients with nephroblastoma and 12 controls with quantitative real-time PCR. Three miRNAs were further tested in an independent validation set including sera of patients with renal tumors other than Wilms.
  
  
  RESULTS
  In total, 14 miRNAs showed significantly higher abundance in serum of patients with nephroblastoma than in controls. The miRNAs with highest diagnostic potentials included miRs-130b-3p, -100-5p, and -143-3p with an AUC of 0.94, 0.90, and 0.89, respectively. A signature based on these three miRNAs to differentiated patients from controls with an accuracy of 84.58%, a sensitivity of 76.67%, and a specificity of 92.5%. Higher expression of miRs-100-5p and -130b-3p was confirmed in an independent validation set. The signature based on miRs-100-5p and -130b-3p differentiated patients with nephroblastoma from healthy controls with an accuracy, sensitivity, and specificity of 79.6%, 69.2%, and 90.0%, respectively.
  
  
  CONCLUSIONS
  In summary, we provide first evidence that serum miR-100-5p and -130b-3p hold potential as biomarker for WT irrespective of the subtype and that expression level of these miRNA in serum is unaffected by differences in serum collection.
authors: Department of Human Genetics, Saarland University, Homburg/Saar, Germany.
authors: Nicole
authors: N
authors: Ludwig
authors: Department of Pediatric Oncology and Hematology, Medical School, Saarland University, Homburg, Germany.
authors: Nasenien
authors: N
authors: Nourkami-Tutdibi
authors: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken, Germany.
authors: Christina
authors: C
authors: Backes
authors: Center for Bioinformatics, Saarland University, Saarbrücken, Germany.
authors: Hans-Peter
authors: HP
authors: Lenhof
authors: Department of Pediatric Oncology and Hematology, Medical School, Saarland University, Homburg, Germany.
authors: Norbert
authors: N
authors: Graf
authors: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken, Germany.
authors: Andreas
authors: A
authors: Keller
authors: Department of Human Genetics, Saarland University, Homburg/Saar, Germany.
authors: Eckart
authors: E
authors: Meese
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000097:blood* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D020869:Gene Expression Profiling; D006801:Humans; D035683:MicroRNAs / Q000097:blood* / Q000235:genetics; D009396:Wilms Tumor / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor; C544266:MIRN100 microRNA, human; C554019:MIRN130 microRNA, human; C542359:MIRN143 microRNA, human; D035683:MicroRNAs
keywords: Wilms tumor; circulating miRNA; miR-100-5p; miR-130b-3p; miR-143-3p; serum