Prevalence and Prognosis of Solid Tumors with High Microsatellite
Instability/Deficient Mismatch Repair in China: A Comprehensive
Literature Review and Meta-Analysis
Abstract
Background: Microsatellite instability (MSI) is widely acknowledged as a
reliable clinical biomarker linked to survival advantage due to its
immunogenicity. This study aimed to synthesize information on the
prevalence and prognosis of cancers with high MSI (MSI-H) or deficient
mismatch repair (dMMR) to understand the disease burden and clinical
value in Chinese cancer patients. Methods: A comprehensive search of
English databases (PubMed, Web of Science, Embase, and Cochrane) and
Chinese databases (CNKI and WanFang) was conducted to identify studies
published through September 5, 2022 that examined the prevalence and
prognosis of tumors with MSI-H/dMMR among Chinese cancer patients.
Meta-analysis was conducted to evaluate the pooled prevalences of
MSI-H/dMMR across various tumor types and stages. Results: A total of
106 studies reported the MSI-H/dMMR prevalence, of which 53 studies also
reported clinical outcomes of cancers by MSI-H/dMMR in Chinese cancer
patients. MSI-H/dMMR pooled prevalence (95% confidence interval; number
of studies included) was estimated for endometrial: 24.7%
(17.7%-32.4%; N=15), liver: 19.0% (6.4%-36.0%; N=3), colorectal:
13.6% (10.8%-16.7%; N=57), gastric: 10.1% (5.5%-16.0%; N=14),
ovarian: 8.8% (1.8%-19.8%; N=4), urothelial: 6.8% (0.2%-23.3%;
N=2), and lung cancer: 0.7% (0%-7.6%; N=3). We observed a general
pattern of lower MSI-H/dMMR prevalence in advanced-stage compared with
early-stage cancers. Furthermore, the presence of MSI-H/dMMR with a
positive prognosis was predominantly observed in early-stage cancers
rather than advanced-stage cancers, particularly among patients who did
not receive immunotherapy. Conclusions: In this comprehensive review of
cancer patients in China, the most frequently studied cancer types for
MSI-H/dMMR were endometrial, colorectal, and gastric cancers. These
cancer types also exhibited the highest prevalence of MSI-H/dMMR, with a
lower prevalence observed in later stages compared to early stages.
Overall, MSI-H/dMMR was more commonly linked with a favorable prognosis
in early-stage cancers rather than advanced-stage cancers.