Clinical Information

Somatic (tumor-specific) microsatellite instability (MSI) is assessed by this test. MSI is characterized by numerous alterations in a type of repetitive DNA called microsatellites and occurs as the result of an impaired DNA mismatch repair process. Impaired DNA mismatch repair is a key factor in tumorigenesis and can occur sporadically or as the result of a hereditary cancer predisposition called Lynch syndrome.

Evaluation for MSI may be valuable for clinical decision making. Current data suggest that advanced stage solid tumors with defective DNA mismatch repair (MSI-high: MSI-H) are more likely to respond to treatment with immunotherapies, such as anti-PD-1 therapies. Colon cancers that demonstrate defective DNA mismatch repair (MSI-H) have a significantly better prognosis compared to those with intact mismatch repair (microsatellite stable/MSI- low: MSS/MSI-L). Additionally, current data indicate that stage II and stage III patients with colon cancers characterized by the presence of defective mismatch repair (MSI-H) may not benefit from treatment with fluorouracil alone or in combination with leucovorin. These findings are most likely to impact the management of patients with stage II disease.

MSI analysis, usually in combination with immunohistochemistry staining of the mismatch repair proteins, can also provide helpful diagnostic information in the context of evaluation for Lynch syndrome. See Lynch Syndrome Testing Algorithm.