Establishment of a Detecting Procedure and Analysis of CEBPA-TAD Genetic Mutation in Vietnamese Acut
Acute myeloid leukemia (AML) is caused by mutations leading to the loss of control
over the proliferation and differentiation of leukocytes in the bone marrow. In Vietnam, studies
focusing on the statistics, types, rate and molecular characteristics of common genetic mutations in
AML patients are still limited. Identification of chromosomal mutation using the standard
karyotyping techniques has assisted effectively AML diagnosis, however, in approximate 45% of
AML cases, karyotyping analysis show normal cytogenesis due to abnormalities occurring at the
molecular level.In this study, we focused on the establishment of a procedureto detect CCATTenhancer
binding protein mutations in Transactivation domain region (CEBPA-TAD), which are
considered poor prognostic factor for treatment. Using this procedure, one sample carrying a 17-
nucleotide deletion in TAD1 domain resulting in a frameshift and a premature stop, was identified
and confirmed by sequencing. From these results, we aim to continue screening a larger sample
size to get more significant statistical data and investigate the correlation of CEBPA mutation
status with clinical characteristic to assist prognosis and treatment.