WT1 mutation (Wilms tumor 1 gene)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-WT1-MUTATION |
|---|---|
| Type | Biomarker |
| Aliases | WT1 gene mutationWT1 sequence variantWilms tumor gene 1 mutation |
| Status | reviewed 2026-05-06 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ELN-AML-2022 SRC-NCCN-AML-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"gene_id_ncbi": 7490, "gene_symbol": "WT1", "note": "WT1 (Wilms Tumor 1) is a transcription factor and tumor suppressor on chromosome 11p13. Somatic mutations occur in ~10-15% of AML cases and are concentrated in exons 7 and 9 (zinc-finger domain). WT1 mutations are included in the ELN 2022 adverse-risk category when co-occurring with FLT3-ITD high allelic ratio or other adverse features. WT1 mutations confer adverse prognosis with standard induction chemotherapy (7+3) and are associated with... |
| Measurement | MethodNext-generation sequencing (NGS) myeloid panel — exons 7 and 9 targeted sequencing is standard; comprehensive AML NGS panel recommended. Variant allele frequency (VAF) tracking used for MRD. WT1 transcript level by RT-qPCR: overexpression (>250 copies/10^4 ABL copies at diagnosis, normalized to ABL) correlates with disease burden even without somatic WT1 mutation — used as pan-AML MRD marker. |
| Related biomarkers | BIO-FLT3-MUTATION BIO-NPM1-MUTATION BIO-CEBPA BIO-AML-TP53-ADVERSE BIO-IDH1-R132H BIO-IDH-MUTATION |
Notes
WT1 mutations occur in ~10-15% of AML but are most clinically impactful when co-occurring with other adverse features. The dual role of WT1 (somatic mutation as prognostic marker + WT1 transcript overexpression as MRD marker) is unique among AML molecular markers. Per ELN 2022, WT1 mutations alone in NPM1-mutant, FLT3-ITD-negative AML do not confer adverse risk. Key clinical decision: WT1 mutation in AML with FLT3-ITD high allelic ratio → adverse risk → allogeneic HSCT in CR1 strongly recommended.
Used By
No reverse references found in the YAML corpus.