DEMO-EC-001 — ec-molsubtype

Classification result

DEMO-EC-001

moderate confidence

POLEmut

POLE exonuclease domain mutation. Best prognosis. Swedish guidelines: no adjuvant treatment for stage I-II.

Classification path

1 POLE_EDM Positive POLE p.P286R

Multiple classifier

Additional subtype features detected alongside the primary POLEmut classification:

Per the WHO 2020 hierarchy, the primary classification is POLEmut.

Secondary evidence

TMB

232.5

Concordant TMB 232.5 mut/Mb concordant with POLEmut phenotype.

CNA burden

0.0

Concordant Fraction genome altered: 0.03 — concordant with POLEmut (expected low).

Signatures

Concordant Expected signatures: SBS10a, SBS10b. Present: SBS10a, SBS10b.

Spectrum

Discordant C>A: 55.0% >= 20.0% [PASS]; T>G: 0.0% >= 4.0% [FAIL]; C>G: 5.0% <= 0.6% [FAIL]; indel_fraction: 0.0% <= 5.0% [PASS]

Clinical notes

p.P286R is a tier1 established pathogenic hotspot.
Multiple classifier: concurrent p53abn detected. Per WHO 2020 hierarchy, classified as POLEmut.
Concurrent p53abn evidence: TP53 p.R248W.
POLEmut+p53abn: evidence shows prognosis follows POLEmut (León-Castillo et al. 2020). POLE status dominates.
Swedish guidelines: no adjuvant treatment recommended for stage I-II POLEmut.