The authors of this article declared they have no conflicts of interest.
Genomic aberrations are rare in urothelial neoplasms of patients 19 years or younger
Article first published online: 27 OCT 2006
Copyright © 2006 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
The Journal of Pathology
Volume 211, Issue 1, pages 18–25, January 2007
How to Cite
Wild, P., Giedl, J., Stoehr, R., Junker, K., Boehm, S., van Oers, J., Zwarthoff, E., Blaszyk, H., Fine, S., Humphrey, P., Dehner, L., Amin, M., Epstein, J. and Hartmann, A. (2007), Genomic aberrations are rare in urothelial neoplasms of patients 19 years or younger. J. Pathol., 211: 18–25. doi: 10.1002/path.2075
- Issue published online: 29 NOV 2006
- Article first published online: 27 OCT 2006
- Manuscript Accepted: 8 SEP 2006
- Manuscript Revised: 1 AUG 2006
- Manuscript Received: 28 JUN 2006
Vol. 226, Issue 3, e1, Article first published online: 17 JAN 2012
- genomic characterization
Urothelial neoplasms in patients 19 years of age or younger are rare, and the data regarding clinical outcome are conflicting. Molecular data are not available. Urothelial tumours from 14 patients aged 4 to 19 years were analysed, including FGFR3 and TP53 mutation screening, comparative genomic hybridization (CGH), UroVysion FISH analysis, polymerase chain reaction for human papillomavirus (HPV), microsatellite analysis using the NIH consensus panel for detection of microsatellite instability (MSI) and six markers for loss of heterozygosity on chromosome arms 9p, 9q, and 17p and immunohistochemistry for TP53, Ki-67, CK20 and the mismatch repair proteins (MRPs) hMSH2, hMLH1, and hMSH6. Based on the 2004 WHO classification, one urothelial papilloma, seven papillary urothelial neoplasms of low malignant potential (PUNLMPs), five low-grade, and one high-grade papillary urothelial carcinoma were included. No multifocal tumours were found and recurrence was seen in only one patient with a urothelial papilloma. All patients were alive with no evidence of disease at a median follow-up of 3.0 years. We found no mutations in FGFR3, deletions of chromosome arms 9p, 9q or 17p, MSI or MRP loss, or HPV positivity in any of the patients. Three cases showed chromosome alterations in CGH analyses, urothelial dedifferentiation with CK20 overexpression, or aneuploidy, and one TP53 mutation with TP53 overexpression was found. Urothelial neoplasms in people younger than 20 years are predominantly low grade and are associated with a favourable clinical outcome. Genetic alterations frequently seen in older adults are extremely rare in young patients. Urothelial neoplasms in children and young adults appear to be biologically distinct and lack genetic instability in most cases. Copyright © 2006 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.