domains / families / science / msi-detection

msi-detection

separate

Calls microsatellite instability from WES/WGS/targeted-panel with MSIsensor, MSIsensor-pro, MSIsensor-ct (panel-aware), mSINGS, and MANTIS for FDA pembrolizumab MSI-H pan-tumor / Lynch syndrome / dMMR ICI biomarker. Use when stratifying ICI eligibility (Le 2015), pairing MSI with TMB-H (Sha 2020 / Salem 2018), screening Lynch syndrome (universal IHC + MSI), or distinguishing MSI-H tumors from POLE-exo hypermutator with overlapping signatures.

When to use

• stratifying ICI eligibility
• pairing MSI with TMB-H
• screening Lynch syndrome
• distinguishing MSI-H tumors from POLE-exo hypermutator
• detecting MSI status from somatic sequencing data
• classifying MSI-H / MSS / MSI-L
• ctDNA / blood MSI detection
• tumor-only assay MSI detection

When not to use

• POLE-exo signature profiling without MSI context
• germline sequencing for Lynch syndrome
• IHC testing for dMMR

Skill page

Source