RESUMEN
Objective: To demonstrate the type of CEBPA gene mutations among patients with acute myeloid leukemia (AML), clinical characteristics, and prognostic effect on patient outcomes. Methods: Demographic data, clinical features, laboratory characteristics, and data about treatment and follow-up of 57 patients with CEBPA mutated AML diagnosed at Peking Union Medical College Hospital between April 2016 and November 2022 were collected and analyzed. Results: In total, 57 patients with CEBPA mutation accounted for 16.1% of all the 353 patients with AML, among which 28 patients had CEBPA-bZIPinf and 29 had CEBPA-other. Compared with the CEBPA-other group, the CEBPA-bZIPinf group was younger (54 vs 64 years, P=0.010), de novo AML was more common (P=0.001), and the level of bone marrow blast was higher (68.0% vs 36.3%, P=0.001). Moreover, 24 patients from the CEBPA-bZIPinf group and 19 from the CEBPA-other group received chemotherapy. The one-course complete remission (CR) rate of the CEBPA-bZIPinf group was significantly higher than that of the CEBPA-other (87.5% vs 47.4%, P=0.010) and CEBPA-wt (87.5% vs 50.3%, P=0.002) groups. After a median follow-up of 11 months, the median OS of the CEBPA-bZIPinf group was significantly longer than that of the CEBPA-wt group (not reached vs 22.1 months, P=0.012) . Conclusion: CEBPA-bZIPinf mutated AML is a unique clinical entity, with a younger age of diagnosis, better response to chemotherapy, and better prognosis.
Asunto(s)
Proteínas Potenciadoras de Unión a CCAAT , Leucemia Mieloide Aguda , Mutación , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/diagnóstico , Proteínas Potenciadoras de Unión a CCAAT/genética , Pronóstico , Persona de Mediana Edad , Masculino , FemeninoRESUMEN
Objective: To investigate the clinical characteristics, etiology, and prognosis of familial acute myeloid leukemia (AML) with germline CEBPA mutation and improve the understanding of familial leukemia. Methods: The age of onset, clinical characteristics, outcome, and prognosis of a family of patients with AML were investigated, and the family tree of the cases was displayed. Bone marrow and oral mucosal cells were collected from the proband, and peripheral blood was collected from the relatives of the proband. Gene mutation was detected by gene sequencing technology. Results: A total of 10 patients in this family were diagnosed with acute leukemia, including 4 males and 6 females, with a median age of 9 (3-48) years. Of the 10 patients, six died. Among them, 4 patients did not receive treatment, 1 patient survived 3 years after chemotherapy and died of relapse, and one patient died 2 years after receiving traditional Chinese medicine and supportive treatment. Four patients are alive. One patient has survived 15 years through chemotherapy, and three patients have survived with chemotherapy combined with hematopoietic stem cell transplantation, and the survival time was 6, 9, and 28 months at the end of follow-up. Gene sequencing was performed on proband and 8 relatives of the proband, and 5 were found to have the germline CEBPA TAD p.G36Afs*124 mutation. Among the 5 individuals with confirmed CEBPA mutation, 4 were diagnosed with AML, and 1 had not developed disease during follow-up. Conclusion: AML with germline CEBPA gene mutation mostly occurs in children and young adults, with complete or nearly complete penetrance. With active treatment, most of the patients have a favorable prognosis.