Incidence and detection of high microsatellite instability in colorectal cancer in a Chinese population: a meta-analysis

Abstract

Background: The 4 most common types of DNA mutations in tumors are single-nucleotide variations, insertion-deletion, fusion, and copy number variations. This is followed by microsatellite instability (MSI), which is known to trigger the development of MSI-high (MSI-H) cancer and is responsible for 300,000 new cases of cancer per year in China. We aim to conduct a meta-analysis based on a comparison between the positive rates of the National Cancer Institute (NCI) panel (also known as 2B3D NCI panel) and mononucleotide panels for the diagnosis of MSI in the Chinese population.Methods: In the present meta-analysis, we searched the PubMed, Embase, Web of Science, CNKI, Wanfang, CQVIP, and CBM databases. MSI diagnosis studies by PCR and capillary electrophoresis were included to compare the incidence of MSI-H in colorectal cancer obtained from panels with different microsatellite markers. Egger's bias test was used to assess risk of bias.Results: Seventeen articles were included, which used the Newcastle-Ottawa Scale (NOS) scale for quality evaluation. The NOS scores of the included documents were ≥7 points, and the quality of the documents met the requirements. The incidence of MSI-H detected by the 2B3D NCI panel was 13.5% [95% confidence interval (CI): 10.8-16.4, I 2 =52.321%, P=0.026, n=10 studies including 2,681 participants], the incidence of MSI-H detected by the mononucleotide panels was 10.6% (95% CI: 7.1-14.7, I 2 =81.147%, P=0.000, n=7 studies including 3,249 participants). This indicates that, in the Chinese population, the 2B3D NCI panel can detect 27.4% more MSI-H cancers than the mononucleotide panels, 54.7% more MSI-H cancers than the panel of 6 mononucleotides, and its sensitivity is comparable to that of Promega. Conclusions:The findings of the meta-analysis demonstrated that, using the 2B3D NCI panel for MSI detection can avoid the underestimation of the incidence MSI-H in colorectal cancer and can be considered the most suitable panel for MSI detection in the Chinese population. The inclusion of only published data might be a potential source of publication bias.

Clinicopathological characteristics of high microsatellite instability/mismatch repair-deficient colorectal cancer: A narrative review

“…For example, the incidence of MSI-H CRC is relatively high among Egyptians (37%), African Americans (12%-45%), Europeans (5%-24%), and Caucasian Americans of European descent (8%-20%) (73,80,(86)(87)(88)105). In contrast, the reported incidence of MSI-H CRC in Asian countries is relatively low, ranging from 3.8% to 20.0% in Japan (92, 93) and from 4.5% to 15.0% in China (94,95). Furthermore, the reported frequency of dMMR in synchronous CRCs is lower in Japanese patients than in Western patients (106).…”

Serplulimab, a novel anti-PD-1 antibody, in patients with microsatellite instability-high solid tumours: an open-label, single-arm, multicentre, phase II trial

“…MSI-H accounts for <5–33% of tumours, and a meta-analysis showed that the frequencies were similar between Chinese and Western populations [ 6 ]. The burden of MSI-H cancers is estimated to be more than 1 million and about 0.3 million new cases per year worldwide and in China, respectively [ 6 – 10 ].…”

Utilization of genetic biomarkers testing and its associated factors in advanced colorectal cancer patients in China: a nationwide multicenter clinical epidemiological study

“…Finally, the incidence was obtained using several approaches or panels composed of varying microsatellite markers. According to a meta-analysis of 17 articles, the incidence of MSI-H in Chinese CRC patients ranged from 7.7% to 13.5% when utilizing various diagnostic methodologies or panels (39). Some potential limitations need to be addressed in this study.…”