"CEBPA Deficiency" – What Is It?
CEBPA deficiency or CEBPA-associated familial acute myeloid leukemia is a leukemia predisposition syndrome based on a mutation, i.e., a genetic change in the CEBPA gene. Typically, acute myeloid leukemia (AML) occurs early in several family members.
How Is "CEBPA Deficiency" Diagnosed?
Suspected Diagnosis
CEBPA deficiency is suspected in the following persons:
- People with AML who have close relatives who also have AML
- People who develop AML at a young age (<50 years)
Genetic Diagnostics
The “familial CEBPA deficiency” diagnosis is confirmed by detecting a mutation, i.e., a genetic change in the CEBPA gene.
Further Clinical Diagnostics After Diagnosis
- HLA typing about a possible stem cell transplant
- In the case of leukemia, extensive further examinations are carried out
Human Genetics
- Human genetic connection of the patient
- Detailed family history to find other affected family members and mutation carriers
- Genetic counseling/diagnostics for all family members at risk for the presence of CEBPA-associated familial AML
How High Is the Risk of Cancer?
The risk of developing AML is very high, at over 80%. AML in the context of familial CEBPA deficiency appears earlier than sporadic, i.e., non-familial AML. The average age at diagnosis is 25 years, although this varies greatly from just under 2 years to >45 years. In comparison, the average age at diagnosis of sporadic AML is 65 years.
The prognosis of this form of familial AML appears to be more favorable than that of sporadic AML. After 10 years, 67% of patients are still alive.
Patients with a familial CEBPA deficiency have a high risk of developing leukemia again after undergoing AML.
What Is Known About the Development of "CEBPA Deficiency"?
CEBPA deficiency is caused by a mutation, i.e., a genetic change in the CEBPA gene. This gene codes for the protein C/EBPα, a transcription factor that plays a key role in the development of granulocytes, a specific type of white blood cell. If the CEBPA gene is present in an altered form, the transcription factor can no longer function correctly, and leukemia develops.
CEBPA deficiency can be passed on from parents to their children. The inheritance is autosomal dominant.
Is There Any Form of Treatment Available?
The treatment of AML in patients with a CEBPA mutation should be discussed in detail with the relevant study center and, if possible, should follow a study protocol. It usually consists of chemotherapy. A stem cell transplant can be considered if the disease of a second leukemia does not improve.
Stem cell transplantation in CEBPA mutation carriers before the development of the first leukemia is currently the subject of controversial debate, as transplantation can cure the disease on the one hand but can also have serious side effects on the other.
Diagnosis of " CEBPA Deficiency" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " CEBPA Deficiency" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
Mutation Carriers Who Do Not Have AML
- Complete blood count every 6-12 months
- Bone marrow puncture in the event of clinical abnormalities or abnormal blood count
Patients Who Have AML
As long as the patient has AML, the procedure follows the study protocol and must be discussed with the relevant study center.
The screening recommendations after complete remission in CEBPA-associated familial AML are similar to those for sporadic AML:
- CBC every 1-3 months for two years, then every 3-6 months for up to 5 years
- Bone marrow puncture for abnormal blood findings
Since leukemia can recur even after a longer period, lifelong screening is recommended for patients with CEBPA-associated familial AML.
CEBPA Deficiency- What You Can Do Yourself
You Should Pay Attention to This
The risk of developing a visual pathway tumor (optic glioma) is highest at the age of 3-4 years (0-6 years). There are typical symptoms that parents may notice as their child’s vision deteriorates. These are
- Clumsiness with hands to grasp small things
- Increased bumping on corners and edges, bruises
- protruding eyeball (proptosis)
If you notice an increase in these signs in your child, please make an appointment with your ophthalmologist, pediatrician, or an NF1 specialist outpatient clinic.
The risk of developing MPNST increases in young adulthood. Increased attention is required from puberty onwards:
- Pain that disturbs sleep at night
- Localized neurological changes or loss of function
- Rapid growth of known changes/tumors
- Hard and/or painful neurofibromas of the skin
- Pre-irradiated skin regions
- Known atypical neurofibromas (so-called ANNUBP= Atypical Neurofibromatous Neoplasms of Uncertain Biologic Potential)
- Known high internal neurofibroma burden on whole-body MRI
Don’t hesitate to contact your attending physician or any neurofibromatosis consultation and make an appointment if you are unsure.
Any further questions?
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