CEBPA、DNMT3A Gene Mutations And Their Clinical Significance In Acute Myeloid Leukemia

ObjectiveIn order to evaluate the incidence of CCAAT/enhancer-binding protein A （CEBPA）and DNA methyltransferase3alpha（DNMT3A）gene mutation in patients with acutemyeloid leukemia (AML) and its clinical and prognostic significance.MethodsUse polymerase chain reaction (PCR) to detect mutations throughout the targetfragment of the CEBPA and DNMT3A gene in70acute leukemia (AL) patients withmalignant hematologic disease.Results54cases of70AL cases are de-novo AML patients.11cases have CEBPA mutation(mutation rate：20.37%) in these54patients.4cases have double gene mutations andthe remaining7cases have single gene mutation. No correlations were found betweenmutations of CEBPA gene and age, gender, chromosome karyotype. The number ofbone marrow blast cells and white blood cell count of patients having positive CEBPAmutations is much less than that of CEBPA mutation negative patients. The firstinduction remission rate of CEBPA double mutation group is higher than the singleCEBPA gene mutation or wild type group.6cases with DNMT3A mutation were found in70AL patients and all these6caseswere de novo AML cases. DNMT3A mutations were identified in6of the54(11.1%)de novo AML patients including1case of R882C mutation and5R882H mutation. TheDNMT3A mutation rate is19.2%in AML patients with normal karyotype (NK-AML)and21.7%in acute monocytic leukemia(AML-M5). The clinical parameters such as age、gender、bone marrow blast cells、diagnostic WBC count、chemotherapy completeremission rate of the DNMT3A mutation group is not statistically different from theDNMT3A wide type group.ConclusionsThe CEBPA and DNMT3A gene has a high mutation frequency in AML patients.CEBPA mutation positive patients have better prognosis. DNMT3A mutations are morecommon in patients with normal karyotype AML and M5patients. The relation betweenthese mutations and prognosis needs further study.