Inherited acute myeloid leukemia is a rare and malignant disease. It is often associated with the CEBPA (CCAAT Enhancer Binding Protein Alpha) mutation. This gene abnormality is found in 10%-15% of AML cases. Double mutated CEBPA has favorable outcomes, but single mutated CEBPA patients do not have an improved diagnosis.
“While acute myeloid leukemia is generally a disease of older adults, familial acute myeloid leukemia with mutated CEBPA often begins earlier in life, and it has been reported to occur as early as age 4. Between 50 and 65 percent of affected individuals survive their disease, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia.”
The CEBPA mutation is passed down within families. It interferes with the tumor suppressor gene. This will “disrupt the regulation of blood cell production in the bone marrow, leading to the uncontrolled production of abnormal cells that occurs in acute myeloid leukemia.” Relapse in patients is extremely common.
People with CEBPA mutated AML are characterized by:
Several studies have shown the following results for treatment:
“Those with familial AML with CEBPA mutations, favorable outcomes could be achieved by chemotherapy, and those with refractory or relapsed disease should receive allo-HSCT to eliminate the germline mutations with related donors without mutations or unrelated donors.”
Familial CEBPA associated AML is defined as one or more family member having AML.
See HERE for genetic testing options.
Inherited acute myeloid leukemia is a rare and malignant disease. It is often associated with the CEBPA (CCAAT Enhancer Binding Protein Alpha) mutation. This gene abnormality is found in 10%-15% of AML cases. Double mutated CEBPA has favorable outcomes, but single mutated CEBPA patients do not have an improved diagnosis.
“While acute myeloid leukemia is generally a disease of older adults, familial acute myeloid leukemia with mutated CEBPA often begins earlier in life, and it has been reported to occur as early as age 4. Between 50 and 65 percent of affected individuals survive their disease, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia.”
The CEBPA mutation is passed down within families. It interferes with the tumor suppressor gene. This will “disrupt the regulation of blood cell production in the bone marrow, leading to the uncontrolled production of abnormal cells that occurs in acute myeloid leukemia.” Relapse in patients is extremely common.
People with CEBPA mutated AML are characterized by:
Several studies have shown the following results for treatment:
“Those with familial AML with CEBPA mutations, favorable outcomes could be achieved by chemotherapy, and those with refractory or relapsed disease should receive allo-HSCT to eliminate the germline mutations with related donors without mutations or unrelated donors.”
Familial CEBPA associated AML is defined as one or more family member having AML.
See HERE for genetic testing options.
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Lisa Foster
Lisa Foster is a mom of 3 daughters, a puzzle lover, writer and HealthTree advocate. She believes in the mission of the foundation and the team that builds it forward. She calls Houston, Texas home.