IGHV (inmunoglobulina región variable de cadena pesada) estado mutacional
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-IGHV-MUTATIONAL-STATUS |
|---|---|
| Tipo | Biomarcador |
| Aliaces | IGHVIGHV (мутаційний статус варіабельного регіону важкого ланцюга імуноглобуліну)Estado de la mutación IGHVEstado de mutación IGHVMutado por GHIVIGHV-unmutated |
| Situación | reviewed 2026-04-25 | pending_clinical_signoff |
| Enfermedades | DIS-CLL |
| Fuentes | SRC-NCCN-BCELL-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"functional_impact": "marker of post-germinal-center maturation", "gene": "IGHV (heavy chain variable region — multiple V genes)", "variant_type": "somatic hypermutation status"} |
| Medición | MétodoPCR + secuenciación de Sanger del gen clonal IGHV; calcular % homología de gérmenes Unidadescategorical (mutated <98% germline | unmutated ≥98% germline) |
| Productos químicos y químicos | BIO-CLL-HIGH-RISK-GENETICS |
Notas
Cross-disease relevance: - **CLL/SLL** (primary use): unmutated IGHV (≥98% germline homology) = adverse; mutated = favorable. Historically drove FCR (mutated did well long-term) vs BR (unmutated similar). Modern era: BTKi/VenO work regardless of IGHV status, BUT IGHV-unmutated is one component of the CLL high-risk composite (along with TP53/del 17p/complex karyotype) that drives toward fixed-duration VenO over BTKi continuous in some guidelines. - **MCL** (subset): mutated IGHV in nodal subset (germinal-center-like) behaves more indolently; unmutated in mantle-zone subset more aggressive. Not algorithm-driving currently. - **WM**: IGHV usage informs B-cell ontogeny but not treatment choice. Direct algorithm impact in our KB: triggers RF-CLL-HIGH-RISK when unmutated alone or part of composite. Standalone trigger now wired via this entity.
Utilizado por
Relevancia terapéutica
BMA-IGHV-UNMUTATED-CLL- IGHV mutational status is a fundamental CLL risk stratifier and treatment-selection bioma...
Biomarcador
BIO-CLL-HIGH-RISK-GENETICS- CLL high-risk genetics (TP53 / del(17p) / IGHV-unmutated / complex karyotype)
Señal de alerta
RF-CLL-HIGH-RISK- CLL con genética de alto riesgo: mutación TP53 O del(17p) O karyo complejo IGHV...