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.
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.