RET C634R is the most common MEN2A germline variant. In advanced / metastatic MEN2A-drive...
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| ID | BMA-RET-C634R-MTC |
|---|---|
| Tipo | Relevancia terapéutica |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Enfermedades | DIS-MTC |
| Fuentes | SRC-CIVIC SRC-NCCN-CNS-2025 |
Hechos relativos a la posibilidad de adoptar medidas
| Biomarcador | BIO-RET |
|---|---|
| Variante | C634R (germenes — MEN2A) |
| Enfermedad | DIS-MTC |
| El nivel de ESCAT | IB |
| Combinaciones recomendadas | selpercatinib en monoterapia, pralsetinib |
| Monoterapia contraindicada | cabozantinib / vandetanib (selective-TKI preferred in selective-TKI era) |
| Resumen de las pruebas | RET C634R is the most common MEN2A germline variant. In advanced / metastatic MEN2A-driven MTC, selpercatinib and pralsetinib have activity comparable to M918T disease (LIBRETTO-001 RET-mutant MTC cohort). FDA labels for selpercatinib/pralsetinib in RET-mutant MTC encompass germline / extracellular-domain variants. C634R also drives prophylactic-thyroidectomy timing in MEN2A kindred. |
Notas
ESCAT IB (slightly lower than M918T because LIBRETTO-531 1L superiority data are most robust in M918T-enriched cohorts; C634 is treated identically by FDA label and clinical practice). OncoKB Level 1. Mandatory pheochromocytoma + hyperparathyroidism screening (MEN2A syndrome). Source-gap: SRC-NCCN-THYROID-2025 placeholder; SRC-LIBRETTO001-DRILON-2020 not yet ingested.
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