Larramendy M L, Huhta T, Vettenranta K, El-Rifai W, Lundin J, Pakkala S, Saarinen-Pihkala U M, Knuutila S
Department of Medical Genetics, Haartman Institute, University of Helsinki, Hospital for Children and Adolescents, Finland.
Leukemia. 1998 Oct;12(10):1638-44. doi: 10.1038/sj.leu.2401142.
DNA copy number changes were studied by comparative genomic hybridization (CGH) on bone marrow samples obtained from 72 patients with childhood acute lymphoblastic leukemia (ALL) at diagnosis. The patients had been admitted to the Helsinki University Central Hospital (Finland) between 1982 and 1997. CGH showed DNA copy number changes in 45 patients (62.5%) with a mean of 4.6 aberrations per patient (range, 1 to 22). The results of CGH and chromosome banding analysis were generally concordant, but CGH facilitated specific karyotyping in 34 cases. DNA copy number gains were more frequent than losses (gains:losses, 6:1). Gains of DNA sequences affected almost exclusively whole chromosomes and were most commonly observed in chromosomes 21 (25%), 18 (22.2%), X (19.4%), 10 (19.4%) and 17 (19.4%). The most common partial gain was 1q31-q32 (8.3%). The most common gains of chromosomes 21, 18, X, 10, 17, 14, 4, 6 and 8 appeared concurrently. High-level amplifications of small chromosome regions were sporadic, detected only in two patients (2.8%). Chromosome 21 was involved in both cases. The most common losses were 9p22-pter (12.5%) and 12p13-pter (11.1%). No statistically significant association between the CGH findings and the diagnostic white blood cell count was observed.
通过比较基因组杂交（CGH）对72例儿童急性淋巴细胞白血病（ALL）患者诊断时获取的骨髓样本进行DNA拷贝数变化研究。这些患者于1982年至1997年间入住赫尔辛基大学中心医院（芬兰）。CGH显示45例患者（62.5%）存在DNA拷贝数变化，平均每位患者有4.6个畸变（范围为1至22）。CGH结果与染色体显带分析总体一致，但CGH在34例中有助于进行特定的核型分析。DNA拷贝数增加比减少更常见（增加：减少，6:1）。DNA序列增加几乎仅影响整条染色体，最常见于21号染色体（25%）、18号染色体（22.2%）、X染色体（19.4%）、10号染色体（19.4%）和17号染色体（19.4%）。最常见的部分增加是1q31 - q32（8.3%）。21号、18号、X号、10号、17号、14号、4号、6号和8号染色体的增加同时出现。小染色体区域的高水平扩增是散发性的，仅在2例患者（2.8%）中检测到。两例均涉及21号染色体。最常见的缺失是9p22 - pter（12.5%）和12p13 - pter（11.1%）。未观察到CGH结果与诊断时白细胞计数之间存在统计学显著关联。
