Bernstein R, Pinto M R, Wallace C, Penfold G, Mendelow B
Cancer Genet Cytogenet. 1984 Jul;12(3):225-38. doi: 10.1016/0165-4608(84)90034-7.
A Philadelphia (Ph1) chromosome translocation was found in 180 of 198 cases of chronic myeloid leukemia (CML). A standard t(9;22) was present in 166 patients, 83 of whom were black, 79 white, and 4 of "mixed" ancestry; whereas a variant Ph1 translocation was detected in 14 patients (7.8%), 11 of whom were black and only 3 white. There was a higher frequency of a variant Ph1 among black patients compared with whites. The significantly higher frequency of a variant among our patients compared with surveys from elsewhere could be due to differing environmental agents. Simple variants were detected in four patients. Complex variants were found in eight cases; in one of these patients, only chromosomes #9 and #22 were involved, but a complex rearrangement of chromosome #9 had occurred. A "masked" Ph1 translocation was detected in two cases, both of which showed monosomy #22 because the Ph1 chromosome was incorporated or interchanged with chromosome #9. Karyotypic evolution of the Ph1-positive cell line was observed more frequently in the variant group (71.4%) than the standard group (29.5%). This difference was significant (p less than 0.005). There was no difference in the type of clonal changes seen in standard and variant groups. The majority of clonal changes were observed during the acute stage in both groups. In the variant group, there was no obvious correlation between the type of variant, type of clonal change, blast morphology, or survival. Their initial survival pattern resembled that of Ph1-negative cases, but those patients who survived longer than 1 year showed a survival trend similar to standard Ph1-positive cases. Possible explanations for the specificity of chromosome #22 involvement and the constancy of the 22q11 breakpoint in all these variant translocations are discussed.
在198例慢性髓性白血病（CML）患者中，发现180例存在费城（Ph1）染色体易位。166例患者存在标准的t(9;22)，其中83例为黑人，79例为白人，4例为“混血”；而14例患者（7.8%）检测到变异型Ph1易位，其中11例为黑人，仅3例为白人。与白人患者相比，黑人患者中变异型Ph1的频率更高。与其他地方的调查相比，我们患者中变异型的频率显著更高，这可能是由于环境因素不同。在4例患者中检测到简单变异。在8例中发现复杂变异；其中1例患者仅涉及9号和22号染色体，但9号染色体发生了复杂重排。在2例中检测到“隐匿”的Ph1易位，这2例均显示22号染色体单体，因为Ph1染色体与9号染色体整合或互换。变异组（71.4%）比标准组（29.5%）更频繁地观察到Ph1阳性细胞系的核型演变。这种差异具有统计学意义（p<0.005）。标准组和变异组中观察到的克隆性改变类型没有差异。两组中大多数克隆性改变在急性期观察到。在变异组中，变异类型、克隆性改变类型、原始细胞形态或生存率之间没有明显相关性。他们最初的生存模式类似于Ph1阴性病例，但那些存活超过1年的患者显示出与标准Ph1阳性病例相似的生存趋势。讨论了所有这些变异易位中22号染色体受累的特异性和22q11断点恒定的可能解释。
