Patient has a confirmed germline FH (fumarate hydratase) pathogenic variant (Hereditary L...

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

ID	`RF-HLRCC-CONFIRMED-CARRIER`
Type	Red flag
Status	reviewed 2026-05-18 \| pending_clinical_signoff
Diseases	`DIS-RCC`
Sources	`SRC-ASCO-ACMG-LYNCH-2014` `SRC-NCCN-BCELL-2025`

Red Flag Origin

Definition	Patient has a confirmed germline FH (fumarate hydratase) pathogenic variant (Hereditary Leiomyomatosis and Renal Cell Cancer — HLRCC). HLRCC-RCC is aggressive (papillary type 2 / collecting-duct morphology) — surveillance starts in childhood + low-threshold for surgical resection. Confirmed-carrier RedFlag (§20 v0.2-B).
Clinical direction	investigate
Category	other

Trigger Logic

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

Notes

Prevention-persona confirmed-carrier RedFlag for HLRCC. Severity=critical because HLRCC-RCC is aggressive and can metastasize from small tumors — do NOT 'watch and wait' for small renal masses as in sporadic RCC.

Used By

Indications

IND-HLRCC-CARRIER-INTENSIFIED - IND-HLRCC-CARRIER-INTENSIFIED
IND-HLRCC-CARRIER-SURVEILLANCE - IND-HLRCC-CARRIER-SURVEILLANCE

Red flag

RF-HLRCC-FAMILY-HISTORY-SUSPICION - Family pedigree suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syn...