Investigation and clinical analysis of a family with germline CEBPA mutations in acute myeloid leukemia
10.3760/cma.j.issn.0253-2727.2020.12.007
- VernacularTitle:一个伴CEBPA基因突变的急性髓系白血病家系调查及临床分析
- Author:
Junping ZHANG
1
;
Dong LIN
;
Shuchun WANG
;
Yan LI
;
Yumei CHEN
;
Ying WANG
;
Hui WEI
;
Yingchang MI
;
Jianxiang WANG
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），实验血液学国家重点实验室，国家血液系统疾病临床医学研究中心，天津 300020
- Keywords:
Leukemia, myeloid, acute;
Familial;
CEBPA gene mutation
- From:
Chinese Journal of Hematology
2020;41(12):1008-1012
- CountryChina
- Language:Chinese
-
Abstract:
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.
