Confirmed germline pathogenic / likely-pathogenic variant in the MEN1 (menin) gene. Patie...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

ID	`RF-MEN1-CONFIRMED-CARRIER`
Type	Red flag
Status	reviewed 2026-05-18 \| pending_clinical_signoff
Diseases	`DIS-GI-NET` `DIS-PNET`
Sources	`SRC-NCCN-BCELL-2025` `SRC-NCCN-NET-2025`

Red Flag Origin

Definition	Confirmed germline pathogenic / likely-pathogenic variant in the MEN1 (menin) gene. Patient has had germline panel testing returned positive; the pedigree-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed (current cancer diagnosis routes to treatment-track plan with carrier status recorded for tailored surgical / surveillance decisions). Mandates structured multi-organ endocrine surveillance from early childhood (PTH/Ca from age 5, pituitary MRI from age 5, GEP-NET surveillance from age 10). Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from RF-MEN1-FAMILY-HISTORY-SUSPICION which fires before testing).
Clinical direction	investigate
Category	other

Trigger Logic

{
  "any_of": [
    {
      "finding": "germline_men1_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B confirmed-carrier surveillance pathway — MEN1 (Wermer syndrome). Fires on documented germline MEN1 pathogenic variant positivity in an asymptomatic individual. Engine routes to PreventionPlan recommending: (a) IND-MEN1-CARRIER-SURVEILLANCE (standard) — Thakker/ESE-style annual biochemistry (PTH + ionized Ca + prolactin + IGF-1 + chromogranin-A) from age 5; pituitary MRI q3y from age 5; abdominal MRI q1y from age 10 for GEP-NET surveillance. (b) IND-MEN1-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS shared-decision discussion of prophylactic subtotal parathyroidectomy, intensified gastrinoma / Zollinger-Ellison surveillance, and early calcitonin baseline for any RET-overlap differential. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: Thakker et al. JCEM Clinical Practice Guidelines for MEN1 (2012); ESE 2024 MEN1 update — v0.2-B authoring backlog new SRC entities. Lifetime tumor risk in confirmed MEN1 carriers (Thakker JCEM 2012; ESE 2024): - Primary hyperparathyroidism: ~95% by age 50 (multi-glandular) - GEP-NETs: ~30-80% lifetime (gastrinoma most common; insulinoma, glucagonoma, VIPoma; malignant transformation do...

Used By

Algorithms

ALGO-MEN1-CARRIER-SURVEILLANCE - ALGO-MEN1-CARRIER-SURVEILLANCE

Indications

IND-MEN1-CARRIER-INTENSIFIED - IND-MEN1-CARRIER-INTENSIFIED
IND-MEN1-CARRIER-SURVEILLANCE - IND-MEN1-CARRIER-SURVEILLANCE

Red flag

RF-MEN1-FAMILY-HISTORY-SUSPICION - Family pedigree suggestive of Multiple Endocrine Neoplasia type 1 (MEN1, Wermer syndrome)...