TP53 hotspot in AML — chemo-resistant pattern; venetoclax + HMA palliative; alloSCT prefe...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BMA-TP53-R248Q-AML |
|---|---|
| Type | Actionability |
| Status | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Diseases | DIS-AML |
| Sources | SRC-CIVIC SRC-ELN-AML-2022 SRC-NCCN-AML-2025 |
Actionability Facts
| Biomarker | BIO-TP53-MUTATION |
|---|---|
| Variant | R248Q |
| Disease | DIS-AML |
| ESCAT tier | IIIB |
| Recommended combinations | azacitidine + venetoclax, alloSCT consideration, clinical trial |
| Evidence summary | TP53 hotspot in AML — chemo-resistant pattern; venetoclax + HMA palliative; alloSCT preferred when feasible. Hotspot R248Q is among the most frequent DBD missense — gain-of-function dominant-negative behavior in some functional assays. |
Notes
ESCAT IIIB. Hotspot R248Q listed under BIO-TP53-MUTATION (gene-level BIO; no per-hotspot BIO entity).
Used By
No reverse references found in the YAML corpus.