Key Mutation in Acute Myeloid Leukaemia

Researchers from the Washington University School of Medicine, St. Louis, Missouri have found out mutations in a specific gene that has an impact on the treatment prognosis for some patients with acute myeloid leukemia (AML).

The results had been published in the online issue of the New England Journal of Medicine. They are said to have made an initial discovery of a mutation by completely sequencing the genome of a single AML patient.

The targeted DNA sequencing then used some 300 additional AML patient samples to verify that mutations discovered in 1 gene correlated with the disease. This new work is said to present the newly discovered mutations in a single gene DNA methyltransferase 3A (DNMT3A).

In the study, researchers have found DNMT3A mutations in 21% of all patients with AML studied and in 34% of the patients who had been classified as having a transitional risk of treatment failure which was based on a widely used laboratory tests of their leukemia cells.

More than half of patients are classified as having an intermediate risk and are then typically treated with standard chemotherapy.

"In the cases we studied, mutations in the DNMT3A gene trump everything else we've found so far to predict adverse outcomes in intermediate-risk AML”, said lead author Timothy Ley, MD, Washington University School of Medicine.