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Kidney Week

Abstract: FR-PO1010

Molecular Analysis of Urothelial Carcinoma After Kidney Transplantation

Session Information

  • Onco-Nephrology: Basic
    November 08, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Onco-Nephrology

  • 1500 Onco-Nephrology

Authors

  • Lim, Lee-Moay, Kaohsiung Medical University Hospital Division of Nephrology, Kaohsiung City, Taiwan
  • Hwang, Daw-yang, Kaohsiung Medical University Hospital Division of Nephrology, Kaohsiung City, Taiwan
  • Kuo, Hung-Tien, Kaohsiung Medical University Hospital Division of Nephrology, Kaohsiung City, Taiwan
Background

In Taiwan, urothelial carcinoma(UC) is the most common de novo cancer after kidney transplantation(KT). UC has high degree of molecular heterogeneity compared with other solid tumor. Mutational profiles as revealed by whole exome sequencing (WES) could help in identifying disease-specific genes and also novel genes for therapeutic target and outcomes. In this study, we perform WES of UC developed after KT in an effort to discover the molecular genetics of UC post KT.

Methods

Formalin-fixed paraffin-embedded tumor samples of UC and blood samples from 6 KT patients from our medical center were obtained. KT patients with UC diagnosed before the transplant surgery were excluded. All of the patients were sporadic, without any family history of UC. 5 hemodialysis patients with UC diagnosed after dialysis treatment were selected as control. DNA from tumor sample was extracted for WES analysis. Genomic DNA from blood sample was confirmed by Sanger sequencing as mutation validation.

Results

Our WES data was matched with the Catalogue of Somatic Mutations In Cancer (Cosmic), Intogen, and The Cancer Genome Atlas (TCGA) database for onco-driver genes. 8 genes were identified, including GNAQ, MLLT10, SEPT6, SLC34A2, NTRK3, IKZF1, SH3GL1, and HOXD13. After validation from genomic DNA, 6 genes were identified as uniquely found in tumor sample: MLLT10, SH3GL1, SEPT6, IKZF1, GNAQ and NTRK3 .

Conclusion

This preliminary data provides clues for understanding the mutational landscape of UC developed after KT. In future, functional study regarding these 6 genes will be developed in an effort to investigate the mutational environment of UC after KT.

Baseline characteristic of KT and dialysis patients with UC.

Bioinformatic analysis for WES result regarding UC post KT.

Funding

  • Private Foundation Support