Microsatellite instability in colorectal cancer liquid biopsy—current updates on its potential in non-invasive detection, prognosis and as a predictive marker

Francis Yew Fu Tieng, Nadiah Abu, Learn-Han Lee, Nurul-Syakima Ab Mutalib

Research output: Contribution to journalReview ArticleResearchpeer-review

11 Citations (Scopus)


Colorectal cancer (CRC) is the third most commonly-diagnosed cancer in the world and ranked second for cancer-related mortality in humans. Microsatellite instability (MSI) is an indicator for Lynch syndrome (LS), an inherited cancer predisposition, and a prognostic marker which predicts the response to immunotherapy. A recent trend in immunotherapy has transformed cancer treatment to provide medical alternatives that have not existed before. It is believed that MSI-high (MSI-H) CRC patients would benefit from immunotherapy due to their increased immune infiltration and higher neo-antigenic loads. MSI testing such as immunohistochemistry (IHC) and PCR MSI assay has historically been a tissue-based procedure that involves the testing of adequate tissue with a high concentration of cancer cells, in addition to the requirement for paired normal tissues. The invasive nature and specific prerequisite of such tests might hinder its application when surgery is not an option or when the tissues are insufficient. The application of next-generation sequencing, which is highly sensitive, in combination with liquid biopsy, therefore, presents an interesting possibility worth exploring. This review aimed to discuss the current body of evidence supporting the potential of liquid biopsy as a tool for MSI testing in CRC.

Original languageEnglish
Article number544
Number of pages17
Issue number3
Publication statusPublished - Mar 2021


  • Cell-free DNA
  • Circulating tumor cells
  • Circulating tumor DNA
  • Colorectal cancer
  • Liquid biopsy
  • Microsatellite instability
  • Non-invasive

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