摘要
目的研究儿童急性淋巴细胞白血病(ALL)染色体变化的意义。方法ALL患儿67例均于治疗前抽取骨髓标本1～2mL,进行染色体核型检查,经短期培养法,收获有丝分裂期细胞,常规制片,应用G带技术进行染色体显带,分析20～30个中期细胞,根据人类染色体国际命名法描述核型。结果1.初诊ALL患儿67例中,克隆性核型异常37例,其中结构异常核型18例,数目异常核型16例,同时有数目和结构异常核型3例。2.t(9;22)易位的发生率为4%,且有1例t(9;22)易位中伴附加异常患儿死亡,说明t(9;22)易位核型也是小儿ALL预后不良的标志。3.t(12;21)易位是儿童ALL最常见的染色体异常,其预后良好,本组3例全部缓解。4.超二倍体和多倍体核型是预后良好的标志,而具有其他数目和结构异常核型的白血病,则预后不良。5.染色体核型正常组3例未能缓解,可能与染色体核型中微小片段改变而肉眼无法分析、临床治疗方案和病例的选择有关。结论染色体核型分析对小儿ALL的指导治疗及预后判断具有重要作用,高二倍体核型和t(12;21)易位的ALL预后良好;而其他数目异常,t(9;22)易位和结构异常核型的ALL预后不良。
Objective To study the cytogenetic change and clinical significance in children with acute lymphoblastic leukemia （ALL）. Methods A total of 67 bone marrow samples were taken at the diagnosis, the leukemic cells were cultured for short time and then harvested for karyotyping. For each sample, G - banding analysis was performed for 20 to 30 metaphases. Results 1. Thirty - seven （55%） cases had clonal abnormalities, in which 18 and 16 cases were structural and numerical chromosome abnormalities, respectively, and 3 cases had both chromosome abnormalities. 2. t （9 ;22） accounted for 4% of all cases, and 1 child with t （9 ;22）plus additional abnormity had died, indicating t （9 ;22 ） was a marker of poor prognosis. 3. t （ 12 ;21 ） was the most common change in childhood ALL with better outcome. Three cases with t （ 12 ;21 ） got complete remission in this study. 4. Hyperdiploid also indicated better prognosis, while hypodiploid and other structural abnormities were markers for poor prognosis. 5. Three patients with normal karyotypes did not get remission, this may due to minor chromosome changes which could not be detected by regular karyotype analysis. Conclusions Karyotype analysis is a useful marker for the treatment and prognosis of childhood ALL. Hyperdiploid and t（ 12 ;21 ）show good outcome, but other numerical and structural abnormities such as t（9 ;22） predicate poor prognosis.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2008年第3期216-217,共2页
Journal of Applied Clinical Pediatrics
关键词
核型
白血病
淋巴细胞
儿童
karyotype
leukemia
lymphoblastic
child
