FaCD Online Syndrome Fact Sheet

Last updated: 14 Mar 2012

Name: Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation

Synonym: Familial AML

Mode of Inheritance: AD

Genes

CEBPA, mapped to 19q13.1

Tumor features

leukemia, acute myeloid (AML, incl. ANLL)

Tumor features (possible)

multiple myeloma (Kahler's disease)
myelodysplastic syndrome (MDS)
non-Hodgkin lymphoma

Comment

Smith et al[1] reported a family in whom three members, a father and two of his children, affected by acute myeloid leukemia (AML) had an identical, germline 212delC CEBPA mutation. Age at diagnosis was 10, 18, and 30 years, respectively. Additional families have been reported[2]. Fuchs et al detected germline CEBPA polymorphisms and mutations in patients with acute myeloid leukemia but also in a few patients with myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma[3].

References

[1] Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. The New England journal of medicine 2004; 351(23):2403-7.
[2] Sellick GS, Spendlove HE, Catovsky D, Pritchard-Jones K, Houlston RS. Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2005; 19(7):1276-8.
[3] Fuchs O, Provaznikova D, Kocova M, Kostecka A, Cvekova P, Neuwirtova R, Kobylka P, Cermak J, Brezinova J, Schwarz J, Markova J, Salaj P, Klamova H, Maaloufova J, Lemez P, Novakova L, Benesova K. CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma. Blood cells, molecules & diseases 2008 May-Jun; 40(3):401-5.