Core binding factor acute myeloid leukemia
Core binding factor acute myeloid leukemia (CBF-AML) is a type of cancer that affects the bone marrow and blood cells. It is characterized by a genetic change in the CBFB gene, which is part of the core binding factor complex.
The CBFB gene is involved in regulating the activity of other genes, and the genetic change in CBF-AML leads to the fusion of two genes: CBFB and one of two other genes, RUNX1 or RUNX1T1. This fusion results in the production of an abnormal protein that disrupts the normal function of blood cells.
CBF-AML is more common in adults than in children, and it accounts for about 15-20% of all cases of acute myeloid leukemia. Compared to other types of AML, patients with CBF-AML generally have a better prognosis and a higher frequency of specific genetic mutations.
The exact causes of CBF-AML are not yet fully understood, but it is believed to be a combination of genetic and environmental factors. Some of the additional genetic changes that have been identified in CBF-AML include mutations in genes such as CEBPA, KIT, FLT3, and NPM1.
Treatment for CBF-AML may include chemotherapy, targeted therapy, and stem cell transplantation. Clinical trials are also underway to explore new treatment options for this type of leukemia.
In summary, CBF-AML is a type of acute myeloid leukemia characterized by a genetic fusion involving the CBFB gene. This fusion leads to the production of an abnormal protein that disrupts the normal function of blood cells. Although CBF-AML has a higher frequency of specific genetic mutations and a better prognosis compared to other types of AML, further research is needed to fully understand the causes and develop more effective treatments for this disease.
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Frequency
Core binding factor acute myeloid leukemia (CBF-AML) is a type of cancer that occurs in the bone marrow and affects blood-forming cells. It is characterized by a specific genetic rearrangement known as the CBFB-MYH11 fusion gene, which is present in approximately 15-20% of all AML cases.
The CBFB-MYH11 fusion gene is a result of a genetic change that fuses the CBFB gene with the MYH11 gene. This fusion causes a change in the activity of these genes, leading to the development of leukemia. In CBF-AML, the CBFB-MYH11 fusion gene is most commonly associated with another genetic rearrangement involving the RUNX1 gene, resulting in the RUNX1-RUNX1T1 fusion gene.
The frequency of the CBFB-MYH11 fusion gene varies depending on the population studied and the specific subgroup of AML. It is more commonly found in adult patients with AML compared to pediatric patients. Additionally, it is more frequently seen in AML patients with normal cytogenetics compared to those with other cytogenetic abnormalities.
Studies have shown that the frequency of the CBFB-MYH11 fusion gene in AML ranges from 7-23%, with an average frequency of approximately 15-20%. This fusion gene is considered to be a significant genetic alteration in AML and is often used as a diagnostic marker for CBF-AML.
It is worth noting that the RUNX1-RUNX1T1 fusion gene is present in approximately 50% of patients with the CBFB-MYH11 fusion gene. The presence of both fusion genes is associated with distinct clinical and biological features compared to patients with only the CBFB-MYH11 fusion gene or those with neither fusion gene.
In conclusion, the frequency of the CBFB-MYH11 fusion gene in CBF-AML is approximately 15-20% in the overall AML population. Additional rearrangements involving the RUNX1 gene are frequently seen in patients with this fusion gene, further contributing to the complexity of these genetic abnormalities in CBF-AML.
Causes
Core binding factor acute myeloid leukemia (CBF-AML) is caused by a fusion of two genes, RUNX1 and CBFB. This fusion gene, known as RUNX1-RUNX1T1 or RUNX1-RUNXT1, arises due to a chromosomal rearrangement. In this rearrangement, a portion of the RUNX1 gene is swapped with a portion of the RUNX1T1 gene, resulting in a new fusion gene with altered activity.
The RUNX1 gene is responsible for regulating the development of blood cells in the bone marrow. It is involved in the formation of mature blood cells, including red blood cells, white blood cells, and platelets. The CBFB gene encodes a protein that helps stabilize the RUNX1 protein and enhance its activity.
In CBF-AML, the fusion of the RUNX1 and CBFB genes leads to a change in the activity of the resulting fusion protein. This altered protein disrupts normal blood cell development and differentiation, leading to the development of leukemia.
The RUNX1-RUNX1T1 fusion protein interacts with other proteins and genes involved in cell growth and differentiation, further contributing to the development of leukemia. It affects the activity of various genes involved in the regulation of stem cell self-renewal and differentiation. Additionally, it can interfere with the normal functioning of genes involved in DNA repair and cell cycle control.
The exact causes of the chromosomal rearrangement that leads to CBF-AML are still not fully understood. However, it is believed to be a result of genetic changes that occur during cell division in the bone marrow. These changes may be spontaneous, but they can also be influenced by certain environmental factors or genetic predispositions.
The frequency of CBF-AML is relatively low compared to other types of acute myeloid leukemia. It accounts for approximately 15-20% of all AML cases. The disease can occur at any age, but it is more commonly diagnosed in older adults.