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Family pedigree suggestive of Multiple Endocrine Neoplasia type 2 (MEN2A or MEN2B, RET-dr...

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

IDRF-MEN2-FAMILY-HISTORY-SUSPICION
ТипТривожна ознака
Статуспереглянуто 2026-05-18 | очікує клінічного підпису
ХворобиDIS-MTC
ДжерелаSRC-ATA-THYROID-2015 SRC-NCCN-THYROID-2025

Походження тривожної ознаки

ВизначенняFamily pedigree suggestive of Multiple Endocrine Neoplasia type 2 (MEN2A or MEN2B, RET-driven): any of (a) a family member with a known pathogenic RET variant; (b) first- or second-degree relative with medullary thyroid carcinoma (MTC) — bright line because ~25% of all MTC is hereditary and a single MTC in a relative is sufficient pedigree-suspicion for RET workup; (c) classic MEN2 phenotype cluster in family — MEN2A pattern (MTC + pheochromocytoma + primary hyperparathyroidism) OR MEN2B pattern (MTC + pheochromocytoma + mucosal neuromas / marfanoid habitus / corneal nerve thickening, with no parathyroid involvement). 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_ret_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_medullary_thyroid_carcinoma_first_or_second_degree",
      "value": true
    },
    {
      "finding": "family_men2_phenotype_cluster",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B hereditary pilot — MEN2. Fires on pedigree-based suspicion of MEN2A or MEN2B (RET-driven) in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline RET panel testing — when positive drives the central MEN2 surgical decision (prophylactic thyroidectomy timing by RET mutation risk class per ATA 2015: HST [highest risk, e.g., M918T → MEN2B] = before age 1; H [high risk, e.g., C634 codons → classic MEN2A] = age ≤5; MOD [moderate risk] = age 5 with biochemical surveillance) via IND-MEN2-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical structured surveillance for patients declining testing — periodic neck US, calcitonin, plasma metanephrines — via IND-MEN2-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE (alternative). Triggers correspond to established MEN2-suspicion criteria. The single-MTC-in-a-relative bright line reflects ATA 2015 guidance: hereditary fraction of all MTC is ~25%, RET germline testing is recommended for every MTC patient, and that recommendation cascades to first/second-degree relatives. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. So...

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Тривожна ознака