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

目的 探讨家族聚集性骨髓增生异常综合征/急性髓系白血病(MDS/AML)的诊断、临床特点、基因突变及治疗转归.方法 分析1例家族聚集性MDS/AML家系中兄弟患者的骨髓细胞形态学、免疫分型、细胞遗传学、基因突变,对其疗效和转归进行观察,并复习相关文献.结果 先证者在确诊MDS-原始细胞过多难治性贫血Ⅰ型(RAEBⅠ)4个月后进展为AML,其兄在确诊MDS-难治性血细胞减少伴多系病态造血3个月后进展为MDS-RAEBⅡ,生存期分别为5个月和8个月.结论 家族聚集性MDS/AML临床罕见,其诊断需要结合家族史、细胞遗传学、分子生物学等进行综合判断,预后差.

Familial aggregation myelodysplastic syndromes/acute myeloid leukemia: report of one pedigree and review of literature

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.