Classification result

DEMO-EC-006

high confidence
MMRd

Mismatch repair deficient. Intermediate prognosis. Predictive for checkpoint inhibitor benefit.

Classification path

1 POLE_EDM Negative
2 MMRd Positive

Secondary evidence

TMB

38.0
Concordant TMB 38.0 mut/Mb concordant for MMRd (expected 10-100 mut/Mb).

CNA burden

0.1
Concordant Fraction genome altered: 0.10 — concordant with MMRd (expected low-intermediate).

Signatures

Concordant Expected signatures: SBS6, SBS15, SBS21, SBS26. Present: SBS6, SBS15.

Spectrum

N/A Insufficient SNVs for spectrum analysis (6 < 10).

Clinical notes

Flags

Discordance: MSI-L/MSS (5.0%) but biallelic MMR gene inactivation detected.
Download PDF Classify another JSON