WT1 mutation (Wilms tumor 1 gene)
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-WT1-MUTATION |
|---|---|
| Тип | Біомаркер |
| Синоніми | WT1 gene mutationWT1 sequence variantWilms tumor gene 1 mutation |
| Статус | переглянуто 2026-05-06 | очікує клінічного підпису |
| Хвороби | Не вказано |
| Джерела | SRC-ELN-AML-2022 SRC-NCCN-AML-2025 |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"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... |
| Вимірювання | 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. |
| Пов’язані біомаркери | BIO-FLT3-MUTATION BIO-NPM1-MUTATION BIO-CEBPA BIO-AML-TP53-ADVERSE BIO-IDH1-R132H BIO-IDH-MUTATION |
Нотатки
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.
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