Lo Coco F, Diverio D, Frontani M, Wang Y Z, Montefusco E, De Fabritiis P, Arcese W, De Rossi G, Mandelli F
Hematology, Human Biopathology Department, University La Sapienza of Rome, Italy.
Eur J Haematol. 1991 Mar;46(3):172-6. doi: 10.1111/j.1600-0609.1991.tb01272.x.
Southern blot analyses were performed in sequential DNA samples from 4 patients with Ph' + chronic myeloid leukaemia (CML) who underwent lymphoid or mixed blast crisis (BC). Genomic rearrangements at the breakpoint cluster region (bcr) and immunoglobulin heavy chain (IgH) gene level provided, in these cases, a sensitive and specific evaluation of response to therapy both in terms of blasts and Ph' + cell suppression. Recurrent BC was molecularly characterized in the 4 patients, showing each time identical individual specific DNA rearrangement patterns. Residual blasts were detected in 2 cases during intervening chronic phases by IgH rearrangements. Such findings highlight the specificity of these molecular markers, clearly indicating the failure of ablative therapy in eradicating the neoplastic clone. Finally, molecular and phenotypic identity in individual recurrent BC also suggested, in our cases, a lack of clonal evolution during disease progression.
对4例发生淋巴细胞或混合性原始细胞危象（BC）的Ph'+慢性髓性白血病（CML）患者的连续DNA样本进行了Southern印迹分析。在这些病例中，断点簇区域（bcr）和免疫球蛋白重链（IgH）基因水平的基因组重排，在原始细胞和Ph'+细胞抑制方面，都为治疗反应提供了敏感且特异的评估。对这4例患者复发的BC进行了分子特征分析，每次都显示出相同的个体特异性DNA重排模式。在2例患者的中间慢性期，通过IgH重排检测到了残留的原始细胞。这些发现突出了这些分子标志物的特异性，清楚地表明了消融治疗在根除肿瘤克隆方面的失败。最后，在我们的病例中，个体复发性BC中的分子和表型一致性也提示，疾病进展过程中缺乏克隆进化。
