80例急性单核细胞白血病患者的临床与遗传学分析  

Clinical feature and cytogenetic analysis of 80 patients with acute monocytic leukemia

作　　者：岑岭[1] 姜玉[1] 陈涛[1] 章艳[1] 周民[1] 

机构地区：[1]南京医科大学附属常州第二人民医院血液科,江苏省常州市213003

出　　处：《中华医学遗传学杂志》2014年第2期206-209,共4页Chinese Journal of Medical Genetics

摘　　要：目的研究急性单核细胞白血病（acute monocytic leukemia，AML，M5）的细胞遗传学、临床特征与预后的相互关系。方法采用24h短期骨髓直接培养法制备染色体标本，用R显带技术对80例M5进行核型分析，同时应用荧光原位杂交对所有患者进行MLL基因及P53基因检测。结果53．75％（43／80）的M5患者伴有异常核型，28．75％（23／80）的患者具有11号染色体相关异常，25．00％（20／80）为染色体数目异常及其他异常；30．00％（24／80）患者伴有MLL基因重排，21．25％（17／80）患者伴随P53基因缺失。结论11q23是M5中最为常见的染色体核型异常，伴此种核型异常的患者预后不良。伴遗传学异常的患者P53基因缺失率明显高于遗传学正常患者（P〈O．05）。Objective To explore the relationship between cytogenetic and clinical features and prognosis for patients with acute monocytic leukemia （M5 type）. Methods Chromosome samples were prepared by direct culture of bone marrow for 24 hours. Karyotypes of 80 patients with M5 were analyzed by R banding. Rearrangement of MLL gene and deletion of P53 gene were detected by fluorescence in situ hybridization （FISH）. Results Forty-three patients （53.75%） were found to have abnormal karyotypes, which included 23 patients with abnormalities of chromosome 11 and 20 with other chromosomal abnormalities. Twenty-four patients had MLL gene rearrangements and 17 had P53 gene deletion. Conclusion 11q23 has been the most common chromosomal abnormality among patients with M5, which is associated with poor prognosis. The frequency of P53 gene deletion in patients with genetic abnormalities were significantly higher than those with normal karyotypes （P〈0.05）.

关 键 词：急性单核细胞白血病 细胞遗传学 核型 荧光原位杂交 预后 

分 类 号：R733.71[医药卫生—肿瘤]