WT1

Overview

WT1 (Wilms tumor 1) encodes a transcription factor with both tumor-suppressive and oncogenic roles depending on context. Originally identified as a Wilms tumor suppressor gene, WT1 is recurrently mutated in acute myeloid leukemia (AML) where it functions to disrupt normal hematopoietic differentiation. It is one of 23 significantly mutated genes identified in the TCGA AML genome project.

Alterations observed in the corpus

• Identified as an additional recurrent driver in AML (200 cases; TCGA whole-genome/exome sequencing); grouped with PHF6 as genes outside the major functional categories but with recurrent mutation and allelic expression bias observed for PHF6 PMID:23634996.
• Mentioned in the context of AML genomic subgrouping in a cohort of 1,540 patients; contributes to the broader landscape of transcription-factor mutations alongside RUNX1 and CEBPA PMID:27276561
• EWSR1–WT1 fusion detected by RNA-seq and used diagnostically for desmoplastic small round cell tumor (DSRCT) in a pediatric patient PMID:28007021

Cancer types (linked)

• AML: Recurrent mutation identified in 200 clinically annotated adult de novo AML cases; one of 23 significantly mutated genes by TCGA analysis PMID:23634996.

Co-occurrence and mutual exclusivity

• No specific co-occurrence or mutual-exclusivity patterns reported for WT1 in this cohort; co-mutation structure was primarily analyzed for NPM1, FLT3, DNMT3A, and TP53 PMID:23634996.

Therapeutic relevance

• WT1 is not directly targeted by approved agents; WT1 peptide vaccines have been explored in AML but are not addressed in this corpus PMID:23634996.

Open questions

• The precise mechanism by which WT1 mutations contribute to AML pathogenesis (vs. WT1 overexpression in other AML subtypes) requires further functional characterization PMID:23634996.

Sources

• PMID:23634996

• PMID:27276561

• PMID:28007021

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