Targeted-sequence of normal urothelium and tumor of patients with non-muscle invasive bladder cancer

During tumorigenesis, certain tissues are colonized by mutant clones with oncogenic driver mutations as precancer lesions. These mutations can facilitate clonal expansion and may contribute to malignant transformation. The molecular features of low-grade non-muscle invasive bladder cancer (NMIBC) an...

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Bibliographic Details
Published in:Scientific reports 2022-10, Vol.12 (1), p.1-8, Article 16642
Main Authors: Hayashi, Yujiro, Fujita, Kazutoshi, Sakai, Kazuko, Adomi, Shogo, Banno, Eri, Nojima, Satoshi, Tomiyama, Eisuke, Matsushita, Makoto, Kato, Taigo, Hatano, Koji, Kawashima, Atsunari, Minami, Takafumi, Morii, Eiichi, Uemura, Hirotsugu, Nishio, Kazuto, Nonomura, Norio
Format: Article
Language:English
Subjects:
631/45/147
631/67/395
631/67/589
Bladder cancer
Cancer
Evolution
Fibroblast growth factor receptors
Genetic transformation
Genomics
Humanities and Social Sciences
Invasiveness
multidisciplinary
Mutation
Science
Science (multidisciplinary)
Tumorigenesis
Tumors
Urothelium
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Summary:During tumorigenesis, certain tissues are colonized by mutant clones with oncogenic driver mutations as precancer lesions. These mutations can facilitate clonal expansion and may contribute to malignant transformation. The molecular features of low-grade non-muscle invasive bladder cancer (NMIBC) and high-grade bladder cancer are so distinct that they are thought to follow different evolutionary tumorigenesis pathways. Although NMIBC accounts for most bladder tumors, the somatic mutation patterns in “precancer” urothelium of patients with NMIBC remain unclear. Here, we analyzed specimens of normal urothelium and bladder tumors from patients with low-grade and high-grade NMIBC and investigated the genomic evolution of the cancer. Somatic mutations were analyzed using 50 oncogene-targeted sequences and droplet digital polymerase chain reaction for TERT promoter mutations. Somatic mutations in TERT promoter, FGFR3 , and CDKN2A were characteristically identified in the normal urothelium of patients with NMIBC. These mutations, consistently identified in both tumor and normal specimens, likely affect clonal expansion during the malignant transformation of NMIBC. Though larger samples and comprehensive study are warranted to confirm our results, the difference in mutational landscape of the precancerous urothelium of patients with bladder cancer could offer deeper understandings of genomic evolution in bladder tumorigenesis.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-022-21158-8