Eguchi-Ishimae M, Eguchi M, Tanaka K, Hamamoto K, Ohki M, Ueda K, Kamada N
Department of Cancer Cytogenetics, Research Institute for Radiation Biology and Medicine, Hiroshima University.
Jpn J Cancer Res. 1998 Jul;89(7):783-8. doi: 10.1111/j.1349-7006.1998.tb03284.x.
Fluorescence in situ hybridization (FISH) analysis was applied to detect t(12;21) using two yeast artificial chromosome probes and cosmid probes covering the TEL(ETV6) and the AML1 gene to clarify the incidence of abnormality of t(12;21) in Japanese childhood acute lymphoblastic leukemia (ALL). We detected seven TEL/AML1 fusion positive patients (9.5%), all of whom were diagnosed as B-lineage ALL, among 74 childhood ALL. On the other hand, no TEL/AML1 fusion positive patients were found among 37 adult ALL. The incidence among Japanese seemed to be lower than that among other nations. Of the seven patients with the TEL/AML1 fusion, five exhibited normal karyotype, one was t(8;12)(q11;p13), i(21q) and the remaining one exhibited a near-triploid karyotype in conventional G-banding. The FISH method clearly demonstrated that all patients with the TEL/AML1 fusion had subpopulations of leukemic cells with deletion of the normal TEL allele, which is significant for understanding the progression of leukemia with t(12;21).
应用荧光原位杂交（FISH）分析，使用两种酵母人工染色体探针和覆盖TEL（ETV6）和AML1基因的黏粒探针检测t(12;21)，以明确日本儿童急性淋巴细胞白血病（ALL）中t(12;21)异常的发生率。在74例儿童ALL中，我们检测到7例TEL/AML1融合阳性患者（9.5%），所有患者均被诊断为B系ALL。另一方面，在37例成人ALL中未发现TEL/AML1融合阳性患者。日本人中的发生率似乎低于其他国家。在7例TEL/AML1融合患者中，5例核型正常，1例为t(8;12)(q11;p13)、i(21q)，其余1例在传统G显带中显示近三倍体核型。FISH方法清楚地表明，所有TEL/AML1融合患者的白血病细胞亚群均存在正常TEL等位基因缺失，这对于理解t(12;21)白血病的进展具有重要意义。
