Shikano T
Hokkaido Igaku Zasshi. 1989 Nov;64(6):727-37.
The karyotype of 124 children with acute lymphoblastic leukemia (ALL), who were diagnosed on the basis of the FAB classification, were studied according to numerical, structural abnormalities and the presence or absence of translocations. Clonal chromosome abnormalities were found in 85 (68.5%) of the 124 patients. Firstly, chromosome abnormalities were classified according to modal number. Twenty-four patients with ALL had hyperdiploidy (51-66 chromosomes). They had favorable prognostic factors, including low leukocyte count, age between 2 and 10 years and a low level of serum LDH. They had the most favorable outcome. Thirty-nine patients with normal karyotype had a relatively favorable outcome. In contrast 8 patients with near hyperdiploidy (47, 48 chromosomes), 47 with pseudodiploidy, and 4 with hypodiploidy (45 chromosomes) had a poor outcome. Secondly, chromosome abnormalities were also classified according to specific structural abnormalities. The 1; 19 translocation, which is associated with the pre-B phenotype, was found in 13 patients. Their outcome was better than has hitherto been reported. The abnormality of the short arm of chromosome 12 was found in 11 patients, who had a good outcome. The chromosome abnormality of the breakpoint in the T-cell receptor gene locus, containing bands 14q11 and 7q35, was found in 7 patients. Four patients had mediastinal tumors and the T phenotype. Their outcome was intermediate. The 14q32 translocation was found in 8 patients. The 8; 14 translocation was closely associated with L3 (FAB) and the B phenotype, but another 14q32 translocation was not. Their outcome was poor. The 11q23 translocation was found in 4 Patients, who had null cell blasts. Three of the 4 had unfavorable prognostic factors, including both a high leukocyte count and age under one year. They had a poor outcome. The partial deletion of the long arm of chromosome 6 was found in 4 patients. The structural abnormality of the short arm of chromosome 9 was found in 4 patients with absence of T cell phenotype. Two patients had a mass. Prognosis of the patients with 6q- and 9p abnormalities was unclear because of the small number of cases. Thirdly, chromosome abnormalities were also classified according to the presence or absence of translocations. The chromosomal translocations, which have an adverse effect in ALL (p = 0.004), were ones of the strongest predictor of treatment outcome. This study demonstrated that chromosome modal number, specific structural abnormalities and the presence or absence of translocations were significantly correlated with clinical features and survival rates of Japanese childhood ALL.
对124例根据FAB分类法诊断为急性淋巴细胞白血病（ALL）的儿童的核型进行了研究，依据染色体数目、结构异常以及是否存在易位情况展开分析。124例患者中，85例（68.5%）发现有克隆性染色体异常。首先，根据众数染色体数目对染色体异常进行分类。24例ALL患者为超二倍体（51 - 66条染色体）。他们具有良好的预后因素，包括白细胞计数低、年龄在2至10岁以及血清乳酸脱氢酶水平低。他们的预后最佳。39例核型正常的患者预后相对良好。相比之下，8例近超二倍体（47、48条染色体）、47例假二倍体和4例亚二倍体（45条染色体）的患者预后较差。其次，根据特定的结构异常对染色体异常进行分类。与前B表型相关的1；19易位在13例患者中被发现。他们的预后比迄今报道的要好。12号染色体短臂异常在11例患者中被发现，这些患者预后良好。在7例患者中发现了位于T细胞受体基因座断点处的染色体异常，该基因座包含14q11和7q35带。4例患者有纵隔肿瘤且为T表型。他们的预后中等。在8例患者中发现了14q32易位。8；14易位与L3（FAB）和B表型密切相关，但另一种14q32易位则不然。他们的预后较差。在4例患者中发现了11q23易位，这些患者为无核细胞原始细胞。4例中的3例具有不良预后因素，包括白细胞计数高和年龄小于1岁。他们的预后较差。在4例患者中发现了6号染色体长臂部分缺失。在4例无T细胞表型的患者中发现了9号染色体短臂的结构异常。2例患者有肿块。由于病例数较少，6q - 和9p异常患者的预后尚不清楚。第三，根据是否存在易位对染色体异常进行分类。在ALL中具有不良影响的染色体易位（p = 0.004）是治疗结果最强的预测指标之一。本研究表明，染色体众数数目、特定结构异常以及是否存在易位与日本儿童ALL的临床特征和生存率显著相关。
