The MSI (Microsatellite Instability) by Fragment Analysis test is a molecular diagnostic test used to detect genetic changes in microsatellite regions of DNA. Microsatellite instability occurs when the DNA mismatch repair system is defective, leading to errors in repetitive DNA sequences. This test is particularly important in colorectal and endometrial cancers, as MSI status helps identify patients with Lynch syndrome, predict prognosis, and guide treatment decisions, including suitability for immunotherapy. It provides valuable insights into personalized cancer management.
Yes, MSI positivity strongly suggests defective mismatch repair, which is a hallmark of Lynch syndrome, though genetic testing is needed for confirmation.
No, it is also valuable in endometrial, gastric, and other cancers where mismatch repair defects may occur.
Yes, MSI-high tumors often respond better to immune checkpoint inhibitors, guiding treatment decisions.
No, MSI testing detects instability, but genetic testing is required to confirm inherited mutations in mismatch repair genes.
Yes, combining fragment analysis with immunohistochemistry provides a more complete assessment of mismatch repair status.
Yes, MSI-high colorectal cancers often have a better prognosis compared to microsatellite-stable tumors.
It detects instability in microsatellite regions, but some defects may require complementary methods like IHC or sequencing.
Yes, guidelines recommend MSI testing in all colorectal cancer cases to identify Lynch syndrome and guide therapy.
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