Familial CEBPA-mutated acute myeloid leukemia
K Tawana, A Rio-Machin, C Preudhomme… - Seminars in …, 2017 - Elsevier
Familial CEBPA-mutated acute myeloid leukemia (AML) represents a recognized leukemia
predisposition syndrome, with several families described in the literature since the initial
report in 2004. The pathological features and long-term survival of individuals with familial
CEBPA-mutated AML are reminiscent of sporadic CEBPA dm AML. Germline mutations
predominantly localize to the N-terminal and are associated with near complete penetrance,
with age of AML onset from 2–50 years, frequently accompanied by the acquisition of a …
predisposition syndrome, with several families described in the literature since the initial
report in 2004. The pathological features and long-term survival of individuals with familial
CEBPA-mutated AML are reminiscent of sporadic CEBPA dm AML. Germline mutations
predominantly localize to the N-terminal and are associated with near complete penetrance,
with age of AML onset from 2–50 years, frequently accompanied by the acquisition of a …