Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.

Autor: Kunnackal John G; Division of Gastroenterology and Hepatology, University of Maryland School of Medicine, Baltimore, MD, 21201, USA. george.john@umm.edu.; Easton, MD, 21601, USA. george.john@umm.edu., Das Villgran V; Allegheny Health Network, Pittsburgh, PA, USA., Caufield-Noll C; Medical Librarian, Johns Hopkins Bayview Medical Center, Baltimore, MD, 21224, USA., Giardiello F; Division of Gastroenterology and Hepatology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2021 Apr; Vol. 20 (2), pp. 145-156. Date of Electronic Publication: 2020 Sep 11.
DOI: 10.1007/s10689-020-00206-0
Abstrakt: To perform a systematic assessment of universal Lynch syndrome (LS) screening yield in colorectal cancer (CRC) patients around the world. Universal screening for LS is recommended in all CRC patients. However, the variation in yield of LS screening in the setting of significant global variation in CRC prevalence is unknown. A systematic review of articles in the MEDLINE database was performed to identify studies performing universal screening for LS. All cases with microsatellite instability (MSI-H) or missing one or more proteins on immunohistochemistry (IHC) were considered screening positive. The overall pooled yield of universal LS screening in 97 study arms from 89 identified studies was 11.9% (5649/47545) and the overall pooled percentage of confirmed LS patients was 1.8% (682/37220). LS screening positivity varied significantly based on geographic region (Kruskal Wallis test, p < 0.001) and reported 5-year CRC prevalence in the country (Fisher's exact, p < 0.001). Significant inverse correlation was found between LS screening positivity and 5-year CRC prevalence (Pearson correlation, r =  - 0.56, p < 0.001). The overall yield of LS screening was 15.00% (382/2553) and rate of confirmed LS was 7.7% (113/1475) in LS screening done in patients ≤ 50 years (16 studies). There is significant geographic variation in LS screening positivity with higher yield in countries with lower prevalence of CRC. Our results highlight the importance of universal LS screening in younger patients and low CRC prevalence countries.
Databáze: MEDLINE