Annotation Detail
Information
- Associated Genes
- DNMT3A
- Associated Variants
-
DNMT3A MUTATION
DNMT3A MUTATION - Associated Disease
- myelodysplastic syndrome
- Source Database
- CIViC Evidence
- Description
- 12/150 patients with de novo myelodysplastic syndrome screened for DNMT3A mutations (bone marrow and paired normal skin) had heterozygous mutations with predicted translational consequences. 1 patient was identified with 2 nonsynonymous coding mutations. R882 mutations accounted for 4/13 reported mutations, P904L for 2/13 mutations and the remaining had not been previously reported at the time of this report. Overall and event-free survival were worse for DNMT3A mutant patients although transplantation status was not considered (log-rank p=0.005 and p=0.009). Transformation to AML was increased for mutant 7/12 (58%) versus wildtype 39/138 (28%) patients (p=0.007). The authors note larger cohorts will be required to confirm these results.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1238
- Gene URL
- https://civic.genome.wustl.edu/links/genes/18
- Variant URL
- https://civic.genome.wustl.edu/links/variants/189
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Myelodysplastic Syndrome
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 21415852
Drugs