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Family pedigree suggestive of Multiple Endocrine Neoplasia type 1 (MEN1, Wermer syndrome)...

Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.

IDRF-MEN1-FAMILY-HISTORY-SUSPICION
ТипТривожна ознака
Статуспереглянуто 2026-05-18 | очікує клінічного підпису
ХворобиDIS-GI-NET DIS-PNET
ДжерелаSRC-NCCN-NET-2025

Походження тривожної ознаки

ВизначенняFamily pedigree suggestive of Multiple Endocrine Neoplasia type 1 (MEN1, Wermer syndrome): any of (a) a family member with a known pathogenic MEN1 gene variant; (b) classic MEN1 phenotype met in the family — ≥2 of (primary hyperparathyroidism, anterior pituitary adenoma, gastro-entero-pancreatic neuroendocrine tumor [GEP-NET]) in the proband or in two first-degree relatives; (c) a first-degree relative with a clinical MEN1 diagnosis carrying ≥1 of the three classic MEN1 tumors. No current personal cancer diagnosis in the individual at risk. Prevention-persona RedFlag (§20 ratification 2026-05-18, v0.2-B hereditary pilot — additional).
Клінічний напрямinvestigate
Категоріяother

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "family_men1_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_classic_men1_criteria_met",
      "value": true
    },
    {
      "finding": "family_first_degree_men1_with_one_men1_tumor",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B hereditary pilot — MEN1. Fires on pedigree-based suspicion of Multiple Endocrine Neoplasia type 1 in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline MEN1 panel testing via IND-MEN1-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical multi-organ MEN1 surveillance for patients declining testing via IND-MEN1-SUSPICION-PREVENTION-ENHANCED- SURVEILLANCE (alternative). Triggers correspond to established MEN1-suspicion criteria (a known MEN1 pathogenic variant in family, classic MEN1 ≥2-of-3 phenotype cluster meeting clinical-diagnosis criteria, or a first-degree relative with clinical MEN1 + ≥1 classic tumor — the "any one MEN1 tumor in a relative with confirmed MEN1" pedigree-spread bright line). Patient profile is expected to carry these as computed booleans from the pedigree input (FHIR FamilyMemberHistory at the data-standards layer; computation is a downstream concern not yet implemented). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: dedicated MEN1 surveillance source — Thakker et al. JCEM Clinical Practice Guidelines for M...

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Indications

Тривожна ознака