成人与儿童急性淋巴细胞白血病细胞遗传学大样本对比分析  

A Comparative Cytogenetic Analysis in Large Scale between Adult and Childhood Patients with Acute Lymphoblastic Leukemia

作　　者：刘旭平 竺晓凡 王建祥 秘营昌 邹尧 陈玉梅 李承文 代芸 秦爽 肖继刚 徐方运 贡金英 王四平 于成龙 范婧 

机构地区：[1]中国医学科学院协和医学院血液学研究所血液病医院,天津300020

出　　处：《中国实验血液学杂志》2009年第6期1399-1404,共6页Journal of Experimental Hematology

基　　金：国家科技支撑计划;编号2008BAI61B01

摘　　要：本研究对566例成人急性淋巴细胞白血病(aALL)和586例儿童急性淋巴细胞白血病(cALL)的细胞遗传学进行对比分析。对所有患者均进行了细胞遗传学分析,部分患者进行了FISH检测。结果表明:aALL与cALL的染色体异常存在明显的差异。aALL中异常核型占62.0%,染色体异常较多见的为t(9;22)(q34;q11)、亚二倍体、超二倍体(47-50)、abn(6q)、abn(9p)、-7等,预后不良的占多数。cALL中异常核型占39.2%,染色体异常较多见的为高超二倍体、亚二倍体、TEL/AML1(+)、+8、超二倍体(47-50)、+21等,预后良好的占多数。其中异常核型、总亚二倍体、总超二倍体(47-50)、t(9;22)(q34;q11)、-7、abn(7q)、abn(14q32)、+Ph在aALL中的发生率明显高于cALL;cALL正常核型(N)、高超二倍体、+8、+21*2、TEL/AML1(+)的发生率明显高于aALL。Ph(+)在aALL中的检出率为20.5%,伴有附加异常的占63.8%。Ph(+)aALL附加异常中+Ph、-7、i(9q+)、9p-、+8、+21、+X、6q-、abn(14q32)、+14出现的比例较高。Ph(+)在cALL中的检出率为4.4%,明显低于aALL(p=0.000),伴有附加异常的占42.3%,附加异常中abn(9p)、abn(7p)、-7、17p-、+21出现的比例较高。结论:本组病例染色体数目异常及结构异常几乎涉及到每一条染色体,复杂核型多见。aALL与cALL的染色体异常存在明显的差异。This study was purposed to comparatively analyze the cytogenetic characteristics between 566 cases of adult acute lymphoblastic leukemia （aALL） and 586 cases of childhood acute lymphoblastic leukemia （cALL）. The cytogenetic analysis of all the patients was performed, and the FISH detection for partial patients was carded out. The result showed that the difference of chromosome abnormality between cALL and aALL was statistically significant. The percentage of abnormal karyotypes in aALL was 62.0%, including mainly t （ 9; 22 ） （ q34; ql 1 ）, hypodiploidy, hyperdiploidy （47 -50）, abn（6q）, abn（9p） and -7, most of which conferring an unfavorable prognosis. The percentage of abnormal karyotypes in cALL was 39.2% , composed mainly of high hyperdiploidy, hypodiploidy, TEL/AML1 （ ＋ ）, ＋ 8, hyperdiploidy （47 -50） and ＋21, etc, most of which conferring a favorable prognosis. The incidences of abnormal karyotypes, total hypodiploidy, total hyperdiploidy （47-50）, t（9;22）（q34;q11）, -7, abn（7q）, abn（14q32） and ＋ Ph in aALL were significantly higher than those of cALL （p 〈 0.05 ）, whereas the incidences of normal karyotype （N）, high hyperdiploidy, ＋8, ＋21 ＊ 2 and TEL/AML1 （ ＋ ） in cALL were significantly higher than those of aALL （p 〈0.05）. 20.5% of aALL were Ph ＋ aALL, with 63.8% of which being with additional abnormalities, composed mainly of ＋Ph,-7, i （9q＋）, 9p-, ＋8, ＋21, ＋X, 6q-, abn（14q32）and ＋14. In contrast, only4.4% of cALL were Ph ＋ aALL, with 42.3% of which being with additional abnormalities, including mainly abn（9p）, abn（7p）, -7, 17p- and ＋ 21. It is concluded that almost every chromosome is involved in the numerical and structural abnormalities and complex karyotypes are common. The significant difference of chromosome abnormality exists between aALL and cALL.

关 键 词：急性淋巴细胞白血病 成人急性淋巴细胞白血病 儿童急性淋巴细胞白血病 细胞遗传学 

分 类 号：R733.1[医药卫生—肿瘤]