4.7 Article

Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation

期刊

JOURNAL OF TRANSLATIONAL MEDICINE
卷 20, 期 1, 页码 -

出版社

BMC
DOI: 10.1186/s12967-022-03522-4

关键词

Kidney transplantation; Malignancy; Urothelial carcinoma; Whole exome sequencing; Mutations

资金

  1. Kaohsiung Medical University Hospital [KMUH104-4M09, KMUH110-0R18]
  2. Taiwan Ministry of Science and Technology (MOST) [109-2635-B-037-009, MOST 110-2314-B-037-071]

向作者/读者索取更多资源

This study compares the genetic alterations in urothelial carcinoma (UC) developed after kidney transplantation (UCKT) and in UC in patients on hemodialysis (UCHD). Specific gene mutations were found in UCKT, potentially contributing to the understanding of the molecular pathogenesis of urothelial carcinoma.
Kidney transplantation is a lifesaving option for patients with end-stage kidney disease. In Taiwan, urothelial carcinoma (UC) is the most common de novo cancer after kidney transplantation (KT). UC has a greater degree of molecular heterogeneity than do other solid tumors. Few studies have explored genomic alterations in UC after KT. We performed whole-exome sequencing to compare the genetic alterations in UC developed after kidney transplantation (UCKT) and in UC in patients on hemodialysis (UCHD). After mapping and variant calling, 18,733 and 11,093 variants were identified in patients with UCKT and UCHD, respectively. We excluded known single-nucleotide polymorphisms (SNPs) and retained genes that were annotated in the Catalogue of Somatic Mutations in Cancer (COSMIC), in the Integrative Onco Genomic cancer mutations browser (IntOGen), and in the Cancer Genome Atlas (TCGA) database of genes associated with bladder cancer. A total of 14 UCKT-specific genes with SNPs identified in more than two patients were included in further analyses. The single-base substitution (SBS) profile and signatures showed a relative high T > A pattern compared to COMSIC UC mutations. Ingenuity pathway analysis was used to explore the connections among these genes. GNAQ, IKZF1, and NTRK3 were identified as potentially involved in the signaling network of UCKT. The genetic analysis of posttransplant malignancies may elucidate a fundamental aspect of the molecular pathogenesis of UCKT.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据