McCarthy D M, Rassool F V, Goldman J M, Graham S V, Birnie G D
Lancet. 1984 Dec 15;2(8416):1362-5. doi: 10.1016/s0140-6736(84)92058-0.
In a patient with Ph-positive chronic granulocytic leukaemia who had 3 separate episodes of promyelocytic transformation associated with new cytogenetic and genetic changes DNA from the peripheral-blood leucocytes obtained during the second episode of transformation showed an 8-fold to 16-fold amplification of cellular myc proto-oncogene (c-myc) sequences, and rearrangement of these sequences. There was no amplification or rearrangement of c-myc sequences in DNA from leucocytes collected during the chronic phase, nor were these sequences amplified in DNA from leucocytes collected during the third episode of transformation. These observations show that new clones of cells that proliferate during the evolution of a myeloid leukaemia can carry genetic changes in addition to any recognisable karyotypic changes. Such genetic changes might underlie the progression of the disease.
在一名伴有3次分别与新的细胞遗传学和基因改变相关的早幼粒细胞转化发作的Ph阳性慢性粒细胞白血病患者中，在第二次转化发作期间获得的外周血白细胞DNA显示细胞原癌基因（c-myc）序列有8倍至16倍的扩增以及这些序列的重排。在慢性期收集的白细胞DNA中未检测到c-myc序列的扩增或重排，在第三次转化发作期间收集的白细胞DNA中这些序列也未被扩增。这些观察结果表明，在髓系白血病演变过程中增殖的新细胞克隆除了任何可识别的核型改变外，还可能携带基因改变。这种基因改变可能是疾病进展的基础。
