Display Settings:


Send to:

Choose Destination

Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2010 Oct 21.



Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease.


CEBPA mutations are found in the leukemic cells of approximately 9% of persons with AML, including 15%-18% of persons with normal-karyotype AML; however, few of these individuals have a germline mutation. Detection of a germline CEBPA mutation in a specimen that contains only non-leukemic cells from an individual with AML or detection of a germline CEBPA mutation in a member of a pedigree in which more than one family member has had AML or myelodysplastic syndrome (MDS) establishes the diagnosis of familial AML with mutated CEBPA.


Treatment of manifestations: Treatment usually includes cytarabine/anthracycline-based induction and cytarabine-based consolidation chemotherapy with or without hematopoietic stem cell transplantation (HSCT). Whenever possible, persons with AML should be treated as part of a clinical trial protocol. Prevention of secondary complications: Similar to that for other types of AML (i.e., administration of blood products such as red blood cell and platelet transfusions as needed; treatment of infections with antibiotics; and use of prophylactic antibiotics and anti-fungal agents during periods of severe neutropenia). Surveillance: Similar to that for other forms of AML. Because of the possible lifelong increased risk of leukemia in persons with familial AML with mutated CEBPA who are cured of their initial disease, additional (possibly lifelong) surveillance may be warranted.


Familial AML with mutated CEBPA is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo germline mutation is unknown; currently, all seven reported affected individuals have had an affected parent. Each child of an affected individual has a 50% chance of inheriting the germline mutation. If the disease-causing mutation has been identified in an affected family member, prenatal testing for at-risk pregnancies is possible through laboratories offering either prenatal testing for the gene of interest or custom testing. Requests for prenatal testing for conditions that do not affect intellect and have treatment available are not common.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

Books & DocumentsFree full text
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Write to the Help Desk