Stage I endometrial carcinoma with pathogenic POLE or POLD1 exonuclease-domain mutation (...
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | RF-POLE-POLD1-ENDOMETRIAL-LOW-RISK |
|---|---|
| Тип | Тривожна ознака |
| Статус | переглянуто 2026-04-29 | очікує клінічного підпису |
| Хвороби | DIS-ENDOMETRIAL |
| Джерела | SRC-ESGO-ENDOMETRIAL-2025 SRC-ESMO-ENDOMETRIAL-2022 SRC-NCCN-UTERINE-2025 |
Походження тривожної ознаки
| Визначення | Stage I endometrial carcinoma with pathogenic POLE or POLD1 exonuclease-domain mutation (POLE-EDM / POLD1-EDM hypermutator phenotype) — TCGA / TransPORTEC integrated classification predicts excellent recurrence-free survival; adjuvant chemotherapy/radiotherapy is NOT indicated. NCCN Uterine 2025 endorses observation only. |
|---|---|
| Клінічний напрям | de-escalate |
| Категорія | risk-score |
Логіка спрацьовування
{
"all_of": [
{
"finding": "stage",
"value": "I"
},
{
"any_of": [
{
"finding": "BIO-POLE-HYPERMUTATOR",
"value": "positive"
},
{
"finding": "BIO-POLD1-HYPERMUTATOR",
"value": "positive"
}
]
}
],
"type": "biomarker_composite"
}
Нотатки
PORTEC-3 / TransPORTEC pooled analyses showed Stage I POLE-mutated endometrial carcinoma has near-100% recurrence-free survival without adjuvant therapy, even with high-grade morphology. POLD1-EDM is rarer but mechanistically equivalent and grouped with POLE in TCGA / ESGO-ESTRO integrated risk classification. de-escalate direction reflects avoidance of chemo/RT that would otherwise be considered for high-grade Stage I endometrial cancer. Routes care to IND-ENDOMETRIAL-STAGE-I-POLE-OBSERVATION. shifts_algorithm: empty because there is no Stage I endometrial algorithm yet — orchestrator should wire when ALGO-ENDOMETRIAL-STAGE-I lands. NCCN Uterine 2025 §UN-A and ESGO-ESTRO 2025 endometrial guideline both endorse observation for POLE-EDM Stage I.
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Біомаркер
BIO-POLD1-HYPERMUTATOR- POLD1 hypermutator phenotype (proofreading-domain mutation)BIO-POLE-HYPERMUTATOR- POLE hypermutator phenotype (proofreading-domain mutation)