Table 1.
CRC type | Subcategory | Characteristics | Prevalence |
---|---|---|---|
Microsatellite instability |
MSI-H: >30% of marker loci with instability (Bethesda panel of 5 markers or alternate panel) OR lack of MMR protein on IHC |
Germline: MLH1, MSH2, MSH6, PMS2 Sporadic: Hypermethylation MLH1 Hypermutation profile but stable karyotype; strong correlation with BRAF mutations (40–45%) Right-sided lesions with poor diff, mucinous features and lymphocytic invasion Associated with CpG-Island methylation phenotype-high (CIMP-H) |
5% 10% |
Chromosomal instability |
Includes both MSI-L (<30% of marker loci with instability) and MSS (No evidence instability) tumors: |
Unstable karyotype, demonstrates chromosome gains and losses KRAS, TP53, APC, PIK3CA, SMAD4, CTNNB1 mutations More commonly associated with CIMP-low or negative |
80–85% |
MSI = microsatellite instability, MMR = mismatch repair, IHC = immunohistochemistry, MSS = microsatellite stable.