Reddy K S, Parsons L, Wang S, Mak L, Dighe P, Yu T L
Quest Diagnostics Inc., San Juan Capistrano, CA 92690, USA.
Cancer Genet Cytogenet. 2000 Apr 1;118(1):48-51. doi: 10.1016/s0165-4608(99)00186-7.
A 66-year-old man was diagnosed 10 years ago with thrombocytosis and treated with hydroxyurea. Recently, his condition deteriorated and he was found to have 68% blasts in the blood and AML-M5a. Conventional cytogenetic analysis and fluorescence in situ hybridization studies using 11-painting and MLL probes showed that chromosome 11 had duplications or triplications; the markers were also derived from the chromosome 11-MLL region. Therefore, we have demonstrated segmental rearrangement of chromosome 11 involving the MLL region resulting in multiple copies of the MLL gene.
一名66岁男性10年前被诊断为血小板增多症，并接受了羟基脲治疗。最近，他的病情恶化，血液中发现68%的原始细胞，诊断为急性髓系白血病M5a型。使用11号染色体涂染探针和MLL探针进行的传统细胞遗传学分析及荧光原位杂交研究显示，11号染色体存在重复或三倍体；这些标记物也来自11号染色体-MLL区域。因此，我们证实了11号染色体涉及MLL区域的节段重排，导致MLL基因出现多个拷贝。
