Clasificación RET MEN2 basada en codón (MEN2A / MEN 2B / FMTC)
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BIO-RET-MEN2-CLASSIFICATION |
|---|---|
| Tipo | Biomarcador |
| Aliaces | Estratificación del nivel de riesgo ATA RETFMTC vs MEN2AMEN2A vs MEN2BRET MEN2 subtipo de clasificaciónКласифікація MEN2 за кодоном RET (MEN2A / MEN2B / FMTC) |
| Situación | reviewed 2026-05-18 | pending_clinical_signoff |
| Enfermedades | Ninguna declarada |
| Fuentes | SRC-ENDOCRINE-SOCIETY-MEN-2023 SRC-NCCN-THYROID-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | composite_score |
|---|---|
| Detalles de la mutación | {"functional_impact": "activación (señalización de quinasa constitutiva)", "gene":"RET", "gene_hugo_id": HGNC:9967", "variant_type": |
| Productos químicos y químicos | BIO-RET-GERMLINE BIO-RET-M918T |
Notas
Composite codon-phenotype classification for MEN2 (germline RET- activating pathogenic variants). ATA 2015 / NCCN 2025 stratify carriers into three syndromic subtypes and four codon-based risk tiers driving prophylactic-thyroidectomy timing. Syndromic subtypes: • MEN2A (~75% of MEN2): MTC + pheochromocytoma (~50%) + primary hyperparathyroidism (~25%); occasional cutaneous lichen amyloidosis or Hirschsprung disease. Codons mostly cysteine-rich extracellular domain (609, 611, 618, 620, 630, 634). • MEN2B (~5%): MTC (earliest onset, most aggressive) + pheo (~50%) + marfanoid habitus + mucosal neuromas (tongue, lips, GI) + medullated corneal nerves. Codon M918T (95%) or A883F (rare). • FMTC (~20%): MTC only, no pheo / no HPT. Codons 768, 790, 791, 804, 891 (lower-risk codons) — increasingly considered MEN2A variant with low-penetrance pheo. ATA RET risk tiers driving prophylactic-thyroidectomy timing: • Highest risk (ATA HST): M918T → thyroidectomy by age 1 (before metastatic MTC). • High risk (ATA H): C634, A883F → by age 5. • Moderate risk (ATA MOD): 609, 611, 618, 620, 630, 768, 790, 791, 804, 891 → individualized; consider 5-10 years (basal calcitonin + neck US trigger). Surveilla...
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