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A variante patogénica/patógena provável confirmada na ANKRD26 (Trombocitopenia 2,...

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IDRF-ANKRD26-CONFIRMED-CARRIER
TipoSinal de alerta
Estadoreviewed 2026-05-20 | pending_clinical_signoff
DoençasDIS-AML DIS-MDS-HR
FontesSRC-ELN-AML-2022 SRC-ESMO-MDS-2021 SRC-NCCN-AML-2025

Origem da bandeira vermelha

DefiniçãoConfirmed germline pathogenic / likely-pathogenic variant in ANKRD26 (Thrombocytopenia 2, THC2; OMIM 188000). Most pathogenic variants cluster in the 5′-untranslated region (the ANKRD26 5′UTR hotspot, chr10:27,389-27,420), disrupting RUNX1 / FLI1-mediated repression and producing a persistent ANKRD26 over-expression phenotype during megakaryopoiesis. Patient has had germline panel testing returned positive, ideally on buccal / fibroblast germline tissue. The carrier presents from birth / childhood with mild-to-moderate isolated thrombocytopenia (platelet count 40-120 x10⁹/L typically) plus a variably-penetrant bleeding diathesis (mild mucocutaneous bleeding, surgical bleeding risk). Lifetime risk of myeloid malignancy (MDS or AML) is documented as ~5-10% in cohort series and is lower than in classic RUNX1 / FPD/AML pedigrees, but enough to mandate lifelong surveillance — the malignant p...
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "germline_ankrd26_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "thrombocytopenia_2_clinical_criteria_met",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Wave P confirmed-carrier surveillance pathway — germline ANKRD26 (Thrombocytopenia 2). Fires on documented germline ANKRD26 pathogenic variant positivity (typically the 5′UTR hotspot) OR documented THC2 clinical criteria (lifelong moderate thrombocytopenia + RUNX1-negative + ANKRD26-targeted genetic test positive). Engine routes to PreventionPlan recommending: (a) IND-ANKRD26-CARRIER-SURVEILLANCE (standard) — CBC + smear q6 months lifelong from carrier confirmation; BMA + myeloid NGS panel + cytogenetics at any clinically-concerning change (new cytopenia in another lineage, persistent dysplasia on smear, unexplained increase in WBC); annual review of bleeding history + medication review (avoid antiplatelet drugs when feasible); cascade testing to first-degree relatives. (b) IND-ANKRD26-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS BMA every 3-5 years even without provoked indication; q3-month CBC during pregnancy / perioperative windows; preemptive HLA typing on candidate sibling donors with germline ANKRD26 screening required before any future transplant use; structured-bleeding-risk plan for major surgery / obstetric care. STUB pending two-Clinical-Co-Lead signoff pe...

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