Recurrent Papillary Bladder Tumors in a Boy With Lynch Syndrome

Rafael Tua-Caraccia; Austin Livingston; Jonathan C Routh

doi:10.1016/j.urology.2023.06.016

Recurrent Papillary Bladder Tumors in a Boy With Lynch Syndrome

Urology. 2023 Nov:181:133-135. doi: 10.1016/j.urology.2023.06.016. Epub 2023 Jul 6.

Authors

Rafael Tua-Caraccia¹, Austin Livingston², Jonathan C Routh²

Affiliations

¹ Department of Urology, Duke University School of Medicine, Durham, NC. Electronic address: [email protected].
² Department of Urology, Duke University School of Medicine, Durham, NC.

PMID: 37422136
DOI: 10.1016/j.urology.2023.06.016

Abstract

Lynch syndrome (LS) is an autosomal dominant genetic disorder defined by germline mutations in one of four mismatch repair genes including PMS2, MLH2, MSH1, MSH2, or deletion in the EPCAM gene.¹ The most common urologic manifestation of LS is upper tract urothelial carcinoma, which occurs in up to 20% of patients with LS.² While data are scarce, there is growing evidence of an increased relative risk of bladder malignancy in patients with LS.^3,4 Bladder tumors in children are a rare entity and the link between pediatric bladder tumors and LS has not been previously reported to our knowledge.

Publication types

Case Reports

MeSH terms

Carcinoma, Transitional Cell* / complications
Carcinoma, Transitional Cell* / genetics
Child
Colorectal Neoplasms, Hereditary Nonpolyposis* / complications
Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
DNA Mismatch Repair
Humans
Male
Urinary Bladder
Urinary Bladder Neoplasms* / complications
Urinary Bladder Neoplasms* / diagnosis
Urinary Bladder Neoplasms* / genetics