CD79B mutation (ITAM domain, e.g. Y196)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-CD79B-MUTATION |
|---|---|
| Type | Biomarker |
| Aliases | CD79B mutationМутація CD79B (ITAM-домен, напр. Y196) |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-CIVIC SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss of negative regulation → chronic active BCR signaling → NF-κB activation", "gene": "CD79B", "variant_type": "missense in ITAM Y196 (most commonly Y196F/H/N/S/I)"} |
| Measurement | MethodNGS panel covering ITAM hotspots (Y196, Y197) Unitscategorical (positive | negative) |
| Related biomarkers | BIO-CD79B-IHC |
Notes
Distinct from BIO-CD79B-IHC (which captures protein expression as polatuzumab-vedotin target). This biomarker captures activating *mutations* in the ITAM domain (most commonly Y196F/H/N/S/I) that drive chronic active BCR signaling. Cross-disease relevance: - **DLBCL (MCD / C5 cluster)** (~20% of ABC-DLBCL): co-mutates with MYD88 L265P → defines LymphGen MCD subtype. BTKi-sensitive (ibrutinib monotherapy ORR ~80% in MCD R/R DLBCL; rationale for R-CHOP + ibrutinib in fit MCD 1L per PHOENIX subgroup). - **PCNSL** (~30-50%): also co-clusters with MYD88 L265P; ibrutinib crosses BBB and shows R/R activity (Grommes 2017). - **CLL** (~3%): rare; no current treatment-decision driver. Currently a LymphGen MCD-classifier component in DLBCL/PCNSL; engine uses presence as input to BCR-pathway-targeted regimen selection. `multi_allele_mvp` skip reason: ITAM-Y196 has multiple recurring alleles without a single canonical hotspot — defer per-variant actionability lookup to post-MVP.
Used By
No reverse references found in the YAML corpus.