The CEBPA gene is associated with autosomal dominant familial acute myeloid leukemia.
CEBPA-associated familial acute myeloid leukemia (AML) is defined as:
AML in which heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML
In contrast, sporadic CEBPA-associated AML is defined as:
AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells (only found in some cells)
Too few individuals with CEBPA-associated familial AML have been reported to be certain about the natural history of the disease. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML. Onset of disease has been reported in persons as young as age 1.8 years and older than age 45 years. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes in addition to the risk of relapse due to preexisting clones.
The diagnosis of CEBPA-associated familial AML is made when an individual is found to have a germline mutation in the CEBPA gene found in a specimen that contains only non-leukemic (healthy) cells from an individual with AML OR by observing segregation of a shared germline CEBPA pathogenic variant across affected family members.
Screening: lifelong surveillance may be warranted