A number of recurrent chromosomal abnormalities have been shown to have prognostic significance in acute lymphoblastic leukemia (ALL), especially in B-precursor ALL. Some chromosomal abnormalities, such as high hyperdiploidy and the TEL-AML1 fusion, are associated with more favorable outcomes, while others, including the t(9;22), rearrangements of the KMT2A gene (chromosome 11q23), and intrachromosomal amplification of the AML1 gene (iAMP21), are associated with a poorer prognosis.
Chromosomal rearrangements involving the human KMT2A gene are recurrently associated with the disease phenotype of acute leukemias. The identification of KMT2A gene rearrangements is necessary for rapid clinical decisions resulting in specific therapy regimens. Amplification of KMT2A in myelodysplastic syndrome and acute myeloid leukemia has also been observed, and transcriptional similarities between KMT2A amplified and KMT2A rearranged leukemias were identified.
Clinical Applications
- Acute Lymphoblastic Leukemia (ALL)
- Acute Myelogenous Leukemia (AML)