Genomic landscape of young-onset bladder cancer and its prognostic implications on adult bladder cancer

Sun Wha Im, Chang Ohk Sung, Kun Suk Kim, Nam Hoon Cho, Young Min Kim, Ghee Young Kwon, Kyung Chul Moon, Song Yi Choi, Jae Sung Lim, Yeong Jin Choi, Soo Jin Jung, So Dug Lim, Sung Hyun Paick, Ok Jun Lee, Ho Won Kang, Seo Hee Rha, Hee Sang Hwang, Ja Min Park, Sun Young Yoon, Jeesoo ChaeJaeyong Choi, Jong Il Kim, Yong Mee Cho

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3 Citations (Scopus)


Due to the rare occurrence of young-onset bladder cancer (YBC), its genomic characteristics remain largely unknown. Twenty-nine biopsy-proven YBC cases were collected using a nation-wide search for bladder cancer diagnosed at 20 years or younger. Whole exome sequencing and RNA sequencing were carried out in 21 and 11 cases, respectively, and compared with those of adult bladder cancer (ABC) cases obtained from public databases. Almost all YBCs were low grade, non-invasive papillary tumors. YBC had a low mutation burden and less complex copy number alterations. All cases harbored putative driver mutations. Mutations were most commonly found in HRAS (10 cases), with a preference for exon 5. FGFR3 gene fusions were noted with various partner genes (7 cases). The alterations on HRAS and FGFR3 occurred in a mutually exclusive manner. Others included KRAS mutations (2 cases), chromosomes 4p and 10q arm-level deletions (1 case), and ERCC2 mutation (1 case). There were no point mutations in TP53 and FGFR3. The gene expression profiles of YBC were similar to those of the ABC group with good prognosis. None of the YBCs and ABCs with YBC-like mutations showed progression to muscle-invasive tumors. Our results suggest that bladder cancer with YBC-like mutations represents an indolent bladder tumor, regardless of age.

Original languageEnglish
Article number307
Issue number2
Publication statusPublished - 2020 Feb

Bibliographical note

Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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