Germline CEBPA mutations in Korean patients with acute myeloid leukemia

CCAAT/enhancer binding protein alpha (CEBPA) mutations occur in 7.5% to 12.8% of de novo acute myeloid leukemia (AML) [1 –4]. Two types of mutations are possible: an N-terminal frame-shift mutation causing a 42-kDa isoform truncation and 30-kDa isoform overproduction and a C-terminal in-frame mutation in the basic leucine zipper (bZIP) region disrupting the DNA binding and dimerization of CEBPA [5]. CEBPA double mut ations (CEBPAdm) usually contain an N-terminal and a C-terminal mutation, which is now known to be a favorable prognostic factor [3].
Source: Leukemia Research - Category: Hematology Authors: Tags: Letter to the Editor Source Type: research