MYD88 L265P mutation
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-MYD88-L265P |
|---|---|
| Type | Biomarker |
| Aliases | MYD88 L265PМутація MYD88 L265P |
| Status | reviewed 2026-04-25 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "activating (constitutive NF-κB signaling)", "gene": "MYD88", "hgvs_protein": "p.L265P", "variant_type": "missense"} |
| Measurement | MethodPCR / ASO / NGS on bone marrow or peripheral blood Unitscategorical (positive | negative) |
| Actionability lookup | {"gene": "MYD88", "variant": "L265P"} |
| Related biomarkers | BIO-CXCR4-WHIM |
Notes
Cross-disease relevance — activating mutation in TLR/NF-κB pathway: - **Waldenström / LPL** (defining ~95%): predicts BTKi response — MYD88-mut patients respond well to zanubrutinib/ibrutinib monotherapy; MYD88-WT (rare) does NOT respond well, chemoimmuno (DRC, BR) preferred. CXCR4-WHIM co-mutation modulates depth of BTKi response. - **Primary CNS Lymphoma (PCNSL)** (~70-90%): defining-like marker; drives BTKi activity in r/r PCNSL (ibrutinib monotherapy emerging). - **DLBCL ABC subtype** (~30%): predicts ibrutinib activity (PHOENIX trial subset signal) — investigational, not yet driving 1L choice. - **Cutaneous DLBCL of leg type** (~70%): MYD88-mut frequent. Direct algorithm impact in WM 1L. Future: PCNSL workstream + DLBCL ABC 2L+ ibrutinib pathway.
Used By
Actionability
BMA-MYD88-L265P-DLBCL-NOS- MYD88 L265P in DLBCL marks the ABC/MCD molecular subtype (Schmitz et al. NEJM 2018; Wrigh...BMA-MYD88-L265P-HCV-MZL- MYD88 L265P found in ~5-10% of MZL (more in lymphoplasmacytoid variants; rare in classic...BMA-MYD88-L265P-NODAL-MZL- MYD88 L265P found in ~5-10% of MZL (more in lymphoplasmacytoid variants; rare in classic...BMA-MYD88-L265P-PCNSL- MYD88 L265P present in ~70-90% of PCNSL (often co-mutated with CD79B). Ibrutinib monother...BMA-MYD88-L265P-PTLD- MYD88 L265P uncommon in PTLD. Standard PTLD ladder (RIS → rituximab → R-CHOP) per usual a...BMA-MYD88-L265P-SPLENIC-MZL- MYD88 L265P found in ~5-10% of MZL (more in lymphoplasmacytoid variants; rare in classic...BMA-MYD88-L265P-WM- MYD88 L265P present in >90% of WM. Activates NF-κB via BTK/IRAK signaling — rationale for...
Indications
IND-WM-1L-BTKI- IND-WM-1L-BTKIIND-WM-2L-ZANUBRUTINIB- IND-WM-2L-ZANUBRUTINIB
Questionnaires
QUEST-WM-1L-STUB- Waldenström Macroglobulinemia / Lymphoplasmacytic Lymphoma — first line
Red flag
RF-WM-MYD88-L265P-ACTIONABLE- MYD88 L265P is the hallmark mutation of Waldenström macroglobulinemia, present in >90% of...