同时伴有5号、7号染色体异常的急性髓系白血病8例临床和实验室研究

Clinical and laboratorial study of eight acute myeloid leukemia patients with chromosomal structural aberrations involving 5q and 7q

目的:分析同时伴有5号、7号染色体异常的急性髓系白血病(AML)的细胞遗传学和相关临床表现及预后。方法:采用骨髓细胞直接法和(或)24h短期培养法制备染色体,用R显带技术进行细胞遗传学分析。其中4例患者进行了白血病细胞表面免疫标志分析,有4例患者还进行了荧光原位杂交检测。5例患者分别接受高三尖杉酯碱和柔红霉素、阿糖胞苷为主的方案治疗。并随访治疗结果和生存期。结果:8例患者的染色体分析结果均同时伴有5号、7号染色体的异常,核型表现为(-5、-7);(-5、7q-);(5q-、-7);(5q-、7q-、-7)四种形式。临床和血液学改变符合急性髓系白血病诊断。患者化疗后6例未能获得完全缓解,2例完全缓解,中位生存期为4.1个月。结论:同时伴有5号、7号染色体异常是急性髓系白血病中少见的核型异常,其临床预后不良。FISH是确定-5/5q-、-7/7q-染色体异常的强有力的分子遗传学工具。

Objective： To study the clinical and laboratory characteristics of eight acute myeloid leukemia with chromosomal structural aberrations involving 5q and 7q . Methods： Bone marrow cell chromosome karyotype analysis was carried out with direct method and short-term（24 hours）Culture and R-banding technique.Immunophenotype analysis was carried out by flow cytometry.Eight patients with acute myeloid leukemia were treated with HA regimen chemotherapy and followed up.Results： Eight AML patients with chromosomal structural aberrations involving 5q and 7q were identified,six patients did not obtain complete remission and two obtain complete remission.The mean surrival time was 4.1 months.Conclusion： It is a rare chromosome abnormality with AML and the prognosis is very poor. FISH is a powerful tool to identify or refine chromosomal structural aberrations involving 5q and 7q.