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PMID: 42029790 Published · epublish English

Early detection of urological malignancies in Lynch syndrome: a systematic review.

Familial cancer ·Vol. 25 ·No. 2 ·2026-04-24

Doornweerd BHJ, Rasmussen MW

Abstract

Lynch syndrome predisposes to multiple cancer types, including urological malignancies. However, no evidence-based recommendations for surveillance of urological malignancies currently exist. In this systematic review, we aim to describe the current evidence regarding surveillance for these cancers. A systematic literature search was conducted using MEDLINE, searching for urological malignancies, Lynch syndrome, and surveillance including the results of the surveillance methods. Sensitivity and specificity were calculated, when possible, preferably for pooled data from each surveillance method. The risk of bias was assessed using the Newcastle–Ottawa Scale. After full text-screening, nine studies published in 2008–2025 met the inclusion criteria, including two on prostate cancer and seven on urothelial cancer. Prostate cancer-antigen (PSA) surveillance led to 38 prostate cancer diagnoses in 865 individuals with Lynch syndrome, with 71% being clinically significant prostate cancers. In 1564 individuals, 11 urothelial carcinomas were diagnosed by different surveillance methods and 15 diagnoses were missed. Sensitivity of urinalysis, urine cytology, urine MSI, and CT and cystoscopy was 11%, 30%, 100%, and 100% respectively. Specificity was 90%, 97%, 99%, and 100% respectively for these methods. Further data is needed but for prostate cancer surveillance PSA shows promise, while for MSH2 carriers at least, urine microsatellite instability analysis shows promise as a urothelial cancer surveillance test.

Keywords
Cancer prevention Hereditary cancer Lynch syndrome Prostate cancer Surveillance Urothelial carcinoma
Article Info
Journal
Familial cancer
Abbr.
Fam Cancer
ISSN
1573-7292
Published
2026-04-24
Language
English
Country/Region
Netherlands
NLM ID
100898211
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