Familial aggregation myelodysplastic syndromes/acute myeloid leukemia: report of 3 pedigrees and review of literature
10.3760/cma.j.cn115356-20211215-00295
- VernacularTitle:家族聚集性骨髓增生异常综合征/急性髓系白血病家系报告并文献复习
- Author:
Jing WANG
1
;
Mei CHEN
;
Yafeng CAO
;
Jun GU
;
Hongyu LU
;
Hongshi SHEN
Author Information
1. 同济大学附属杨浦医院 上海市杨浦区中心医院血液科，上海 200090
- Keywords:
Myelodysplastic syndromes;
Leukemia, myeloid, acute;
Germline mutation;
Pedigree
- From:
Journal of Leukemia & Lymphoma
2022;31(11):659-663
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics, gene mutation, treatment and prognosis of familial aggregation myelodysplastic syndromes/acute myeloid leukemia (MDS/AML).Methods:The 3 familial aggregation MDS/AML admitted to Shanghai Yangpu District Hospital from August 2012 to March 2019 were collected. The bone marrow examination, gene mutation detection, therapeutic effect and prognosis of the patients were retrospectively analyzed, and the relevant literature was reviewed.Results:In pedigree 1, the survival time of 2 AML patients was 8 months and 1 month, respectively. In pedigree 2, the transformation time of 2 patients diagnosed MDS to AML/high-risk MDS was 4 and 3 months, the survival time was 5 and 8 months, respectively. TP53 and RUNX1 mutations were detected in the older brother. In pedigree 3, the survival time of the AML patient was 13 months, and the MDS patient was stable.Conclusions:Familial aggregation MDS/AML has rapid progression and short survival time, and its diagnosis needs to be combined with family history, cytogenetics, and molecular biology.
