Leukemia. 1993 Jan;7(1):10-9.
A collaborative study carried out by the Groupe Français de Cytogénétique Hématologique collected 411 successful karyotypes of childhood acute lymphoblastic leukemias. Karyotypes showed a clonal abnormality in 292 patients (71%). The distribution of ploidy groups was: pseudodiploidy in 116 karyotypes (28.2%), hyperdiploidy > 50 chromosomes in 110 karyotypes (26.8%), hyperdiploidy 47-50 chromosomes in 46 karyotypes (11.2%) and hypodiploidy in 20 karyotypes (4.9%). One-half of the patients with hyperdiploidy > 50 chromosomes also had a structural abnormality, with a partial trisomy 1q in one fourth of them. Similar translocations, candidate for new recurrent changes were identified: t(9;9)(p13;q13),t(7;9)(q11;p11),t(7;12)(q11;p12-13), t(4;12)(q13;p12), and t(1;17)(q12-21;p13). Within recurrent translocations, the three t(10;11)(p13-14;q14-21) displayed a T-cell phenotype. In T-cell leukemias, a new area of recurrent breakpoints (5q31-35) was observed and deletions 6q were more frequent in this lineage. Correlations of cytogenetic results with clinical and hematological data revealed that, within hyperdiploidy > 50 chromosomes, patients with structural changes were older than patients without. Patients with 9p changes showed some of the features usually observed in lymphomatous leukemias. Even with a short follow-up, differences in outcomes were observed. Patients with hyperdiploidy > 50 chromosomes fared the best and those with pseudodiploid karyotypes did worse than patients with other karyotypes. Patients with random translocations did not share the poor outcome of patients with recurrent translocations.
法国血液细胞遗传学小组开展的一项合作研究收集了411例儿童急性淋巴细胞白血病成功的核型分析结果。核型分析显示，292例患者（71%）存在克隆性异常。倍体组的分布情况为：116个核型为假二倍体（28.2%），110个核型为超二倍体且染色体数>50条（26.8%），46个核型为超二倍体且染色体数为47 - 50条（11.2%），20个核型为亚二倍体（4.9%）。染色体数>50条的超二倍体患者中有一半还存在结构异常，其中四分之一有1q部分三体。还鉴定出了类似的易位，这些易位可能是新的复发性改变：t(9;9)(p13;q13)、t(7;9)(q11;p11)、t(7;12)(q11;p12 - 13)、t(4;12)(q13;p12)和t(1;17)(q12 - 21;p13)。在复发性易位中，三个t(10;11)(p13 - 14;q14 - 21)表现出T细胞表型。在T细胞白血病中，观察到一个新的复发性断点区域（5q31 - 35），6q缺失在该谱系中更为常见。细胞遗传学结果与临床和血液学数据的相关性显示，在染色体数>50条的超二倍体中，有结构改变的患者比无结构改变的患者年龄更大。有9p改变的患者表现出一些通常在淋巴瘤性白血病中观察到的特征。即使随访时间较短，也观察到了预后差异。染色体数>50条的超二倍体患者预后最好，假二倍体核型的患者比其他核型的患者预后更差。有随机易位的患者与有复发性易位的患者预后不同，前者预后不差。
