Table 1.
Tissue-based methods for MSI screening to distinguish sporadic tumours from lynch syndrome.
Method | Advantages | Limitations |
---|---|---|
IHC | Workflow takes up to 4–6 h | Analysis of MMR proteins separately |
Easy to perform | Needs a pathologist with experience in MMR IHC interpretation | |
Performable in samples with <20% neoplastic cells Able to identify defective MMR genes for downstream analysis |
Equivocal test results due to the heterogeneous expression of MMR proteins False-positive results (artificial loss of expression) due to pre-analytic issues or lack of technical calibration Rare false-negative results if there is no apparent loss of expression due to missense mutations in the MMR genes with intact immunoreactivity in approximately 10% of all cases Not reliable in small biopsy specimens Sensitivity depends on antibody panel |
|
MSI-PCR | Allows simultaneous detection of multiple targets | No indication about MMR genes |
Highly reproducible Workflow takes less than 5 h |
Requires samples with at least 20% neoplastic cells Rare false-positive results due to microsatellite polymorphisms Informative only for a few tumour types Limited number of markers |