Hirosawa S, Aoki N, Shibuya M, Onozawa Y
Jpn J Cancer Res. 1987 Jun;78(6):590-5.
We studied chromosome 22 breakpoints in 24 Philadelphia (Ph1)-positive leukemias. Nineteen of 21 patients with chronic myelogenous leukemia (CML) possessed a chromosomal break within the 5.8 kilobase (kb) breakpoint cluster region (bcr). Furthermore, in one of three cases of acute lymphocytic leukemia (ALL), we found a chromosomal rearrangement in the bcr locus. No chromosomal rearrangements were found in two cases of CML and two cases of ALL using several restriction enzymes. The bcr rearrangement is highly specific for CML. Further analyses will be necessary to determine whether some cases without bcr rearrangement have another specific locus of rearrangement. Two of three cases of CML with blastic crisis had rearrangement of the immunoglobulin gene and T-cell receptor gene. One CML patient with blastic crisis, who achieved complete remission but relapsed thereafter, was found to have the same immunoglobulin gene rearrangement in the blastic crisis and relapse phases, suggesting that the same clone was involved in both crisis and relapse.
我们研究了24例费城（Ph1）阳性白血病患者的22号染色体断点。21例慢性粒细胞白血病（CML）患者中有19例在5.8千碱基（kb）的断点簇区域（bcr）内存在染色体断裂。此外，在3例急性淋巴细胞白血病（ALL）患者中的1例，我们在bcr基因座发现了染色体重排。使用几种限制性内切酶，在2例CML和2例ALL患者中未发现染色体重排。bcr重排对CML具有高度特异性。需要进一步分析以确定一些没有bcr重排的病例是否有其他特定的重排位点。3例发生急变期的CML患者中有2例发生了免疫球蛋白基因和T细胞受体基因重排。1例发生急变期的CML患者，获得完全缓解但随后复发，发现在急变期和复发期具有相同的免疫球蛋白基因重排，提示急变期和复发期涉及相同的克隆。
