摘要
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。
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.
作者
王静
陈梅
顾俊
陆弘逾
曹亚峰
Wang Jing, Chen Mei, Ga Jan, Lu Hongyu, Cao Yafeng(Department of Hematology, Tonal University Affiliated Yangpu Hospital, Shanghai Yangpu District Hospital, Shanghai 200090, Chin)
出处
《白血病．淋巴瘤》
CAS
2018年第3期172-175,共4页
Journal of Leukemia & Lymphoma
