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 are 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 is becoming commercially available, and this type of testing will likely be done more widely in the future. 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 favorable prognosis.
It should be noted, however, that when the whole genome of AML patients was studied, many mutations were found that were silent or unrelated to AML.
