DNMT3A: Epimutation in acute myeloid leukemia

Acute myeloid leukemia (AML) is frequently associated with genomic mutations in the gene of DNA-methyltransferase 3A (DNMT3A). Recently discovered epimutations within the same gene can mimic these mutations and are indicative for the survival of AML patients. Cygenia provides an analysis of the DNMT3A epimutation for physicians and scientists to gain better insight into disease development. 


" "
Epimutation in DNMT3A. About 40% of AML patients are hypermethylated at the relevant CpG site within DNMT3A, and this epimutaion is associated with shorter event-free survival.


Area of application

These assays are developed for physicians and scientists. If the doctor in charge wants to consider these new methods to support diagnosis of individual patients, this approach may be valuable – however, it has to be noted that the validity of this new method still requires further research. So far, this service is for research use only.


Relevant literature

Jost E. et alEpimutations Mimic Genomic Mutations of DNMT3A in Acute Myeloid Leukemia. Leukemia, 2014.

Patent application: 2013; EP 13167411.1