The recent years have seen the high heterogeneity of colorectal cancer (CRC) receiving increasing attention and being revealed step by step. Microsatellite instability (MSI), characterized by the dysfunction of mismatch repair gene, plays an important role in the heterogeneity of colorectal cancer. MSI status can be identified by immunohistochemistry for MMR protein such as MLH1, MSH2, PMS2, and MSH6 or PCR-based array for MMR gene. Recent studies have revealed MSI status is the only biomarker that can be used to select patients with high-risk stage II colon cancer for adjuvant chemotherapy. Furthermore, it always indicated better stage-adjusted survival when compared with microsatellite stable (MSS) tumors. For immunotherapy, patients with MSI tumors exhibited significant response to anti-PD-1 inhibitors after the failure to conventional therapy. In this chapter, we discuss the detection methods of MSI, the prognostic value of MSI, and its clinical guiding value in the management of precision therapy.
Keywords: DNA mismatch repair; Microsatellite instability; colorectal cancer; immunotherapy; microsatellite stable.