Testing for High-Level Microsatellite Instability/Deficient Mismatch Repair

Determining the microsatellite instability (MSI) status of colorectal carcinoma (CRC) and other tumor types has recently increased in importance for patient management and prevention strategies. High-level MSI (MSI-H)/deficient mismatch repair (dMMR) (widely used alternative terminologies) has long been known to be a hallmark of Lynch syndrome. The identification of this small subset of patients (approximately 3% of patients with CRC) has major implications for prevention in blood relatives and for avoiding metachronous tumors in patients who have a first Lynch-associated tumor. Preoperative decisions can be made about prophylactic surgery at the initial treatment, including abdominal colectomy and hysterectomy with bilateral salpingo-oophorectomy after childbearing is completed.

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