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.
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.
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