儿童急性淋巴细胞白血病细胞遗传学特征分析  

Cytogenetic analysis of childhood acute lymphoblastic leukemia

作　　者：刘青[1] 蒋慧[1] 孙恒娟[2] 宋以菊[2] 包黎明[2] 

机构地区：[1]上海交通大学附属儿童医院血液肿瘤科,200040 [2]上海交通大学附属儿童医院分子生物学实验室,200040

出　　处：《中华血液学杂志》2012年第4期282-285,共4页Chinese Journal of Hematology

摘　　要：目的分析儿童急性淋巴细胞白血病（ALL）细胞遗传学变化的特点。方法以2009年1月至2011年11月确诊的90例初发ALL患儿为研究对象，采用染色体核型分析及荧光原位杂交（FISH）技术检测患者骨髓白血病细胞的细胞遗传学和分子生物学变化。结果①染色体核型分析：有分裂象者66例，其中异常者35例（53．0％）；无分裂象者24例。@FISH检测：对31例染色体核型正常和24例无分裂象的患者进行FISH检测，异常者分别为7例（占22．6％）和14例（58．3％），其中无分裂象患者异常检出率与有分裂象者核型分析异常检出率差异无统计学意义（P=0．655）；55例患儿中TEL—AML1融合基因阳性16例（29．1％），MLL重排3例（5．5％），bcr-abl融合基因阳性2例（3．6％）。（3）90例患儿通过两种检则方法共检出细胞遗传学异常56例（占62．2％）。结论儿童ALL易出现细胞遗传学改变；对于有足够分裂象的患者，常规染色体核型分析仍是可靠的方法，对分裂象质量低或无分裂象的儿童ALL患者，FISH检测异常克隆能提高细胞遗传学异常检出率。Objective To characterize the genetic aberrations in pediatric acute lymphoblastic leukemia （ALL）. Methods Ninety ALL cases were enrolled in the study from January 2009 to November 2011. Chromosome banding analysis and fluorescence in situ hybridization （FISH） were used to detect genetic aberrations. Results （1）Chromosome analysis： 35 （53.0%） of 66 cases who had metaphase were abnormal, and 24 cases had no metaphase, （2） FISH analysis：among the 31 cases who had normal karyotypes and 24 who had no metaphase detected by chromosome banding technique, 7（22.6% ） and 14（58.3% ） cases were abnormal detected by FISH, respectively. There were no statistically significant differences compared with chromosome analysis（P = 0.655）. Among these 55 ALL cases TEL/AML1, bcr-abl and MLL fusion genes were observed in 16（29.1% ）, 3（5.5% ）and 2（3.6% ） cases, respectively. （3） Cytogenetic aberration was observed in 56 of total 90 ALL cases（62.2% ）. Conclusions Cytogenetic changes are common in childhood ALL. Conven- tional cytogenetic study could reliably detected chromosomal abnormalities for ALL with assessable metaphase. FISH should be used as a complementary method for ALL patients who have poor chromosomal morphology or no metaphase cells, and combination of both methods can improve the detection rate of genetic abnormalities in childhood leukemia.

关 键 词：荧光原位杂交 染色体核型分析 白血病 儿童 

分 类 号：R733.7[医药卫生—肿瘤]