A dataset revealing associations between specific mutations and drug sensitivity in acute myeloid leukaemia (AML) patients is reported in a paper published online this week in Nature. These findings could provide insights into biological and clinical aspects of AML.

AML is a very diverse disease; at least eleven genetic classes and nearly 2,000 different mutated genes have been observed across patients. These complex mutational patterns make developing effective drug therapies challenging, and although a few such therapies are available to patients, these treatments have remained largely unchanged over the last 30-40 years.

Brian Druker and colleagues report initial findings from the Beat AML programme, a dataset of 672 tumour biopsies from 562 AML patients. The authors used a combination of exome sequencing (where genes that code for proteins are sequenced), RNA sequencing and drug-sensitivity analyses to investigate the variations across the tumour samples. They find novel mutations not previously observed in AML, and associations between mutations and responses to drug therapies. For instance, a significant association between mutation of the FLT3, NPM1 and DNMT3A genes and sensitivity to the drug ibrutinib was observed, suggesting that patients carrying the mutated versions of these genes (particularly FLT3) may be more sensitive to this specific treatment.

These results and other future findings from this dataset could lead to the development of new clinical approaches for treating AML.