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Familial aggregation myelodysplastic syndromes/acute myeloid leukemia: report of 3 pedigrees and review of literature

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Author:
No author available
Journal Title:
Journal of Leukemia and Lymphoma
Issue:
11
DOI:
10.3760/cma.j.cn115356-20211215-00295
Key Word:
骨髓增生异常综合征;白血病,髓系,急性;胚系突变;家系;Myelodysplastic syndromes;Leukemia, myeloid, acute;Germline mutation;Pedigree

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.

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