Patient has a confirmed germline TP53 pathogenic variant (positive germline test, distinc...

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ID	`RF-LI-FRAUMENI-CONFIRMED-CARRIER`
Tipo	Sinal de alerta
Estado	reviewed 2026-05-18 \| pending_clinical_signoff
Doenças	`DIS-ADRENOCORTICAL-CARCINOMA` `DIS-AML` `DIS-BREAST` `DIS-LEIOMYOSARCOMA` `DIS-OSTEOSARCOMA`
Fontes	`SRC-ASCO-ACMG-LYNCH-2014` `SRC-NCCN-BCELL-2025`

Origem da bandeira vermelha

Definição	Patient has a confirmed germline TP53 pathogenic variant (positive germline test, distinct from pedigree-suspicion phase). Toronto Protocol whole-body MRI-based surveillance applies. Confirmed-carrier RedFlag (§20, v0.2-B follow-on to RF-LI-FRAUMENI-FAMILY-HISTORY-SUSPICION).
Direcção clínica	investigar
Categoria	Outros

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "germline_tp53_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona confirmed-carrier RedFlag for Li-Fraumeni syndrome. Engine routes to PreventionPlan recommending Toronto Protocol whole-body MRI + brain MRI + colonoscopy from 25 + breast MRI from 20-25 (women) + AVOID radiation. STUB pending two-Clinical-Co-Lead signoff.

Usado por

Algoritmos

ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW - ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW

Indicação

IND-LI-FRAUMENI-CARRIER-INTENSIFIED - IND-LI-FRAUMENI-CARRIER-INTENSIFIED
IND-LI-FRAUMENI-CARRIER-SURVEILLANCE - IND-LI-FRAUMENI-CARRIER-SURVEILLANCE
IND-LI-FRAUMENI-SUSPICION-PREVENTION-GENETIC-COUNSELING - IND-LI-FRAUMENI-SUSPICION-PREVENTION-GENETIC-COUNSELING

Sinal de alerta

RF-LI-FRAUMENI-FAMILY-HISTORY-SUSPICION - Pedigree familiar ou história pessoal que cumpre os critérios sugestivos da Síndrome de Li-Fraumeni (...