Classification result
DEMO-EC-005
NSMP
No specific molecular profile. Intermediate prognosis. Diagnosis of exclusion.
Classification path
1
POLE_EDM
Negative
POLE p.A300T
POLE VUS in exonuclease domain — requires secondary evidence for POLEmut classification.
2
MMRd
Negative
3
TP53_mutation
Negative
4
NSMP
Positive
Secondary evidence
TMB
145.0
Discordant
TMB 145.0 mut/Mb higher than expected for NSMP (expected <10 mut/Mb).
CNA burden
0.0
Concordant
Fraction genome altered: 0.02 — concordant with NSMP (expected low).
Signatures
Concordant Expected signatures: SBS1, SBS5. Present: SBS1.Clinical notes
- No specific molecular profile identified. Classified as NSMP by exclusion.
Flags