Upper Tract Urothelial Carcinoma in the Lynch Syndrome Tumour Spectrum: A Comprehensive Overview from the European Association of Urology - Young Academic Urologists and the Global Society of Rare Genitourinary Tumors
Language English Country Netherlands Media print-electronic
Document type Journal Article, Review, Systematic Review
PubMed
34896051
DOI
10.1016/j.euo.2021.11.001
PII: S2588-9311(21)00189-9
Knihovny.cz E-resources
- Keywords
- EAU Young Academic Urologists, Global Society of Rare Genitourinary Tumors, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, Mismatch repair, Upper tract urothelial carcinoma,
- MeSH
- Colorectal Neoplasms, Hereditary Nonpolyposis * diagnosis genetics pathology MeSH
- Carcinoma, Transitional Cell * diagnosis genetics pathology MeSH
- Humans MeSH
- Urinary Bladder Neoplasms * MeSH
- Urology * MeSH
- Urologists MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Systematic Review MeSH
CONTEXT: Upper tract urothelial carcinoma (UTUC) represents the third most frequent malignancy in Lynch syndrome (LS). OBJECTIVE: To systematically review the available literature focused on incidence, diagnosis, clinicopathological features, oncological outcomes, and screening protocols for UTUC among LS patients. EVIDENCE ACQUISITION: Medline, Scopus, Google Scholar, and Cochrane Database of Systematic Reviews were searched up to May 2021. Risk of bias was determined using the modified Cochrane tool. A narrative synthesis was undertaken. EVIDENCE SYNTHESIS: Overall, 43 studies between 1996 and 2020 were included. LS patients exhibited a 14-fold increased risk of UTUC compared with the general population, which further increased to 75-fold among hMSH2 mutation carriers. Patients younger than 65 yr and patients with personal or family history of LS-related cancers should be referred to molecular testing on tumour specimen and subsequent genetic testing to confirm LS. Newly diagnosed LS patients may benefit from a multidisciplinary management team including gastroenterologist and gynaecologist specialists, while genetic counselling should be recommended to first-degree relatives (FDRs). Compared with sporadic UTUC individuals, LS patients were significantly younger (p = 0.005) and exhibited a prevalent ureteral location (p = 0.01). Radical nephroureterectomy was performed in 75% of patients (5-yr cancer-specific survival: 91%). No consensus on screening protocols for UTUC was achieved: starting age varied between 25-35 and 50 yr, while urinary cytology showed sensitivity of 29% and was not recommended for screening. CONCLUSIONS: Urologists should recognise patients at high risk for LS and address them to a comprehensive diagnostic pathway, including molecular and genetic testing. Newly diagnosed LS patients should be referred to a multidisciplinary team, while genetic counselling should be recommended to FDRs. PATIENT SUMMARY: In this systematic review, we analysed the existing literature focused on upper tract urothelial carcinoma (UTUC) among patients with Lynch syndrome (LS). Our purpose is to provide a comprehensive overview of LS-related UTUC to reduce misdiagnosis and improve patient prognosis.
Department of Genitourinary Oncology Moffitt Cancer Center and Research Institute Tampa FL USA
Department of Medicine Memorial Sloan Kettering Cancer Center New York NY USA
Department of Urology Clinico San Carlos Hospital Madrid Spain
Department of Urology Luzerner Kantonsspital Lucerne Switzerland
Department of Urology Spedali Civili di Brescia Brescia Italy
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