HealthTree Logo
search more_vert
person Sign In / Create Account
Familial AML With The CEBPA Mutation
Posted: Feb 27, 2024
Familial AML With The CEBPA Mutation image

Understanding This Form Of AML

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.”

CEBPA Mutation

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:

  • A shortage of white blood cells.
  • Increased infections.
  • Anemia (low red blood cell count).
  • Fatigue and weakness.
  • Easy bruising and abnormal bleeding (due to low platelet counts).
  • Fever and weight loss.


Several studies have shown the following results for treatment:

  • This form of AML is highly sensitive (and responsive) to chemotherapy.
  • There is no significant difference in receiving an allo-stem cell transplant vs. an auto-stem cell transplant.
  • High-risk patients appear to benefit more from an auto-stem cell transplant.
  • Relapsed patients who received a stem cell transplant showed a 3 -year overall survival of 46%.


“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.

The author Lisa Foster

about the author
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. 

Get the latest thought leadership on Acute Myeloid Leukemia delivered straight to your inbox.

Subscribe to the weekly "HealthTree Community for Acute Myeloid Leukemia Newsletter" for Acute Myeloid Leukemia news, life with Acute Myeloid Leukemia stories, Acute Myeloid Leukemia clinical trials, Acute Myeloid Leukemia 101 articles and events with Acute Myeloid Leukemia experts.

Thanks to our HealthTree Community for Acute Myeloid Leukemia Sponsors:

Astellas Pharma

Follow Us

facebook instagram youtube