KMT2Ar Acute Leukemias
Leukemia is a type of blood cancer that takes place in the bone marrow where normal blood cells are made. It starts with a single stem cell that becomes an abnormal cell—or a leukemia (blast) cell.
Normally, stem cells go through different stages before they fully develop into healthy blood cells, which include:
Red blood cells carry oxygen all throughout your body
White blood cells protect your body and fight infections
Platelets help your blood clot to stop bleeding
With acute leukemia, the abnormal leukemia cells multiply very quickly and take over the space in the bone marrow.
This blocks the cells from turning into normal healthy blood cells. Acute lyphoid leukemia (or ALL) and acute myeloid leukemia (or AML) are two different types of acute leukemia that stop cells from developing into healthy blood cells and lower your healthy blood cell count.
When first diagnosed with ALL or AML, a workup of tests is completed to identify the exact type of acute leukemia a patient has. Part of that workup includes genetic testing that can detect the genetic changes, such as mutations and gene rearrangements, that may have caused a specific type of ALL or AML. Rearrangements of the KMT2A gene (KMT2Ar) cause approximately 10% of acute leukemias.1 It is estimated that more than 95% of patients with KMT2Ar acute leukemia have a KMT2A translocation, a type of rearrangement that occurs when part of one chromosome breaks and fuses to a different chromosome.2
KMT2A gene rearrangements play a role in the development of both AML and ALL
In general, AML is more common in adults, and ALL is more common in infants, children, and young adults. But AML and ALL can affect people of any age. Here’s a breakdown of the percentage of people who have AML or ALL with a KMT2A gene rearrangement:
| KMT2Ar AML1,3 | KMT2Ar ALL1,4 | |
 infants | 35%-60% | >80% |
 children | ~10%-15% | 5%-6% |
 adults | 5%-10% | 5%-15% |
At my initial diagnosis, I had myeloblasts in 96% of my bone marrow, and despite receiving two different treatments, my myeloblast count never went below 70. At this point of my journey, my goal was to get my blast count low enough to be considered in complete remission to be able to qualify for a stem cell transplant.”
References:
- Issa GC, et al. Leukemia. 2021;35:2482-2495.
- Meyer, C, et al. Leukemia. 2023; 37:988-1005.
- Conneely SE, Rau RE. Cancer Metastasis Rev. 2020;39(1):189-209.
- Górecki M, et al. Biomedicines. 2023;11:821.