Family pedigree suggestive of Multiple Endocrine Neoplasia type 1 (MEN1, Wermer syndrome)...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | RF-MEN1-FAMILY-HISTORY-SUSPICION |
|---|---|
| Type | Red flag |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-GI-NET DIS-PNET |
| Sources | SRC-NCCN-NET-2025 |
Red Flag Origin
| Definition | Family 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). |
|---|---|
| Clinical direction | investigate |
| Category | other |
Trigger Logic
{
"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"
}
Notes
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...
Used By
Indications
IND-MEN1-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE- IND-MEN1-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCEIND-MEN1-SUSPICION-PREVENTION-GENETIC-COUNSELING- IND-MEN1-SUSPICION-PREVENTION-GENETIC-COUNSELING
Red flag
RF-MEN1-CONFIRMED-CARRIER- Confirmed germline pathogenic / likely-pathogenic variant in the MEN1 (menin) gene. Patie...