Familial aggregation myelodysplastic syndromes/acute myeloid leukemia: report of one pedigree and review of literature
10.3760/cma.j.issn.1009-9921.2018.03.011
- 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道一例并文献复习
- Author:
Jing WANG
1
;
Mei CHEN
;
Jun GU
;
Hongyu LU
;
Yafeng CAO
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
- Keywords:
Myelodysplastic syndromes;
Leukemia;
myeloid;
acute;
Germline mutation
- From:
Journal of Leukemia & Lymphoma
2018;27(3):172-175
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the diagnosis, clinical characteristics, gene mutation and treatment of familial aggregation myelodysplastic syndromes/acute myeloid leukemia (MDS/AML). Methods Bone marrow morphocytology, immunophenotype, cytogenetics, gene mutation, therapeutic effects and prognosis of the brothers in the line of MDS/AML patients were analyzed, and the related literature was reviewed. Results The prover developed AML after the diagnosis of MDS-refractory anemia with excess blasts-Ⅰ (MDS-RAEB Ⅰ) for 4 months. With elder brother developed MDS RAEB-Ⅱ after the diagnosis of MDS-refractory cytopenia with multilineage dysplasia for 3 months. The survival period was 5 and 8 months. Conclusion Familial aggregation MDS/AML is rare with poor prognosis, and its diagnosis needs to be combined with family history, cytogenetics and molecular biology.
