Comprehensive Study of Microsatellite Instability Testing and Its Comparison With Immunohistochemistry in Gastric Cancersopen access
- Authors
- Park, Yujun; Nam, Soo Kyung; Seo, Soo Hyun; Park, Kyoung Un; Oh, Hyeon Jeong; Park, Young Suk; Suh, Yun-Suhk; Ahn, Sang-Hoon; Park, Do Joong; Kim, Hyung-Ho; Lee, Hye Seung
- Issue Date
- Apr-2023
- Publisher
- KOREAN GASTRIC CANCER ASSOC
- Keywords
- Microsatellite instability; DNA mismatch repair; Immunohistochemistry; Gastric cancer
- Citation
- JOURNAL OF GASTRIC CANCER, v.23, no.2, pp 264 - 274
- Pages
- 11
- Journal Title
- JOURNAL OF GASTRIC CANCER
- Volume
- 23
- Number
- 2
- Start Page
- 264
- End Page
- 274
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74853
- DOI
- 10.5230/jgc.2023.23.e5
- ISSN
- 2093-582X
2093-5641
- Abstract
- Purpose: In this study, polymerase chain reaction (PCR)-based microsatellite instability (MSI) testing was comprehensively analyzed and compared with immunohistochemistry (IHC) for mismatch repair (MMR) protein expression in patients with gastric cancer (GC). Materials and Methods: In 5,676 GC cases, PCR-based MSI testing using five microsatellites (BAT-26, BAT-25, D5S346, D2S123, and D17S250) and IHC for MLH1 were performed. Re-evaluation of MSI testing/MLH1 IHC and additional IHC for MSH2, MSH6, and PMS2 were performed in discordant/indeterminate cases.Results: Of the 5,676 cases, microsatellite stable (MSS)/MSI-low and intact MLH1 were observed in 5,082 cases (89.5%), whereas MSI-high (MSI-H) and loss of MLH1 expression were observed in 502 cases (8.8%). We re-evaluated the remaining 92 cases (1.6%) with a discordant/ indeterminate status. Re-evaluation showed 1) 37 concordant cases (0.7%) (18 and 19 cases of MSI-H/MMR-deficient (dMMR) and MSS/MMR-proficient (pMMR), respectively), 2) 6 discordant cases (0.1%) (3 cases each of MSI-H/pMMR and MSS/dMMR), 3) 14 MSI indeterminate cases (0.2%) (1 case of dMMR and 13 cases of pMMR), and 4) 35 IHC indeterminate cases (0.6%) (22 and 13 cases of MSI-H and MSS, respectively). Finally, MSI-H or dMMR was observed in 549 cases (9.7%), of which 47 (0.8%) were additionally confirmed as MSI-H or dMMR by re-evaluation. Sensitivity was 99.3% for MSI testing and 95.4% for MMR IHC.Conclusions: Considering the low incidence of MSI-H or dMMR, discordant/indeterminate results were occasionally identified in GCs, in which case complementary testing is required. These findings could help improve the accuracy of MSI/MMR testing in daily practice.
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