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Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines
K. Pivovarcikova, T. Pitra, R. Alaghehbandan, K. Buchova, P. Steiner, V. Hajkova, N. Ptakova, I. Subrt, J. Skopal, P. Svajdler, M. Farcas, M. Slisarenko, K. Michalova, A. Strakova Peterikova, M. Hora, M. Michal, O. Daum, M. Svajdler, O. Hes
Language English Country Germany
Document type Journal Article
Grant support
Cooperatio Program
Univerzita Karlova v Praze
research area SURG
Univerzita Karlova v Praze
00669806
Institutional Research Fund FN
NLK
ProQuest Central
from 2003-01-01 to 1 year ago
Medline Complete (EBSCOhost)
from 2011-01-01 to 1 year ago
Nursing & Allied Health Database (ProQuest)
from 2003-01-01 to 1 year ago
Health & Medicine (ProQuest)
from 2003-01-01 to 1 year ago
- MeSH
- Colorectal Neoplasms, Hereditary Nonpolyposis * diagnosis genetics pathology MeSH
- Carcinoma, Transitional Cell * genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Mismatch Repair Endonuclease PMS2 genetics MeSH
- MutL Protein Homolog 1 genetics MeSH
- Urinary Bladder Neoplasms * MeSH
- DNA Mismatch Repair MeSH
- Aged MeSH
- Urology * MeSH
- Germ-Line Mutation MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Upper tract urothelial carcinoma (UTUC) is the third most common malignancy associated with Lynch syndrome (LS). The current European urology guidelines recommend screening for LS in patients with UTUC up to the age of 60 years. In this study, we examined a cohort of patients with UTUC for potential association with LS in order to establish the sensitivity of current guidelines in detecting LS. A total of 180 patients with confirmed diagnosis of UTUC were enrolled in the study during a 12-year period (2010-2022). Loss of DNA-mismatch repair proteins (MMRp) expression was identified in 15/180 patients (8.3%). Germline analysis was eventually performed in 8 patients confirming LS in 5 patients (2.8%), including 4 germline mutations in MSH6 and 1 germline mutation in MSH2. LS-related UTUC included 3 females and 2 males, with a mean age of 66.2 years (median 71 years, range 46-75 years). Four of five LS patients (all with MSH6 mutation) were older than 65 years (mean age 71.3, median 72 years). Our findings indicate that LS-associated UTUCs can occur in patients with LS older than 60 years. In contrast to previous studies which used mainly highly pre-selected populations with already diagnosed LS, the most frequent mutation in our cohort involved MSH6 gene. All MSH6 mutation carriers were > 65 years, and UTUC was the first LS manifestation in 2/4 patients. Using current screening guidelines, a significant proportion of patients with LS-associated UTUC may be missed. We suggest universal immunohistochemical MMRp screening for all UTUCs, regardless of age and clinical history.
Biopticka Laborator S R O Pilsen Czech Republic
Cytopathos S R O Bratislava Slovakia
Department of Urology Faculty of Medicine in Plzeň Charles University Prague Pilsen Czech Republic
References provided by Crossref.org
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