Epigenetics in AML
DNA hypermethylation within the DNMT3A gene in AML patients
Assessing epimutations of DNMT3A in AML patients for: diagnosis, risk stratification, choice of therapeutic regimen
Cost-effective and simple
Epimutations in DNMT3A are found in 40% of AML patients. Almost always these patients lack genetic mutations
The screening for aberrant DNA hypermethylation within DNMT3A provides a relatively simple and cost-effective diagnostic approach for AML. It may be used to select the best treatment for patients.
This method is based on the identification of aberrant hypermethylation at an internal promoter region of DNMT3A, which occurs in about 40% of AML patients. High DNAm levels at this site are particularly observed in samples from AML patients without genetic mutations in DNMT3A. Epimutations and mutations of DNMT3A are associated with related gene expression changes such as upregulation of the homeobox genes in HOXA and HOXB clusters. Furthermore, epimutations in DNMT3A are enriched in patients with poor or intermediate cytogenetic risk, and in patients with shorter event-free survival and overall survival. Taken together, aberrant DNA hypermethylation within the DNMT3A gene, in analogy to DNMT3A mutations, is frequently observed in AML and both modifications seem to be useful for risk stratification or choice of therapeutic regimen.
Licensing
13/05/2014 00:00:00
EP20140723796 20140513
- international:
C12Q1/6886
- cooperative:
C12Q1/6886 (EP); C12Q2600/106 (EP); C12Q2600/154 (EP)
Patent application
3629
Germany
