Discrepancy among Microsatellite Instability Detection Methodologies in Non-Colorectal Cancer: Report of 3 Cases

BACKGROUND Microsatellite instability（MSI） is a predictive biomarker for cancer immunotherapy. The tumor-agnostic nature of MSI makes it a denominator for immunotherapy in several solid tumors. It can be assessed using next-generation sequencing（NGS）, fluorescent multiplex PCR, and immunohistochemistry（IHC）.CASE SUMMARY Here, we report 3 cases with discordant MSI results detected using different methods. A cholangiocellular carcinoma case revealed proficient mismatch repair（MMR） by IHC but high MSI（MSI-H） by liquid NGS. A cervical cancer case revealed deficient MMR by IHC, microsatellite stable by PCR, and MSI-H by NGS. Lastly, an endometrial cancer case revealed proficient MMR by IHC but MSI-H by NGS.CONCLUSION IHC for MMR status is the first choice due to several advantages. However, in cases of indeterminate IHC results, molecular testing by MSI-PCR is preferred.Recently, NGS-based MSI assays are being widely used to detect MSI-H tumors.All three methods have high accuracy; however, the inconsistencies between them may lead to misdiagnosis.