Although most diagnoses of AML genetic changes are based on whole chromosomal changes seen when doing a karyogram, smaller scale mutations are becoming increasingly important. This is especially true for approximately 40% of cases where no chromosomal change has been identified. The following mutations have been found to be important in AML prognosis and treatment:
Many other mutations are being discovered as well. These gene mutations affect transcription and thus replication either directly, or through epigenetic regulation. As molecular methods advance, gene testing will become increasingly important. Next generation sequencing (high-throughput sequencing) is a method used to detect these mutations. Although expensive and time-consuming, the number of panels are becoming commercially available, and it is likely that this type of testing will be done more widely in the future. Just to stress how important this information is becoming, it has been shown that in the AML groups with recurrent genetic abnormalities, finding the NPM1 and CEBPA mutations has been associated with a very favorable prognosis.
It should be noted, however, that in studying the whole genome of AML patients, many mutations were found that were actually silent or unrelated to AML.
