Ganesan T S, Rassool F, Guo A P, Th'ng K H, Dowding C, Hibbin J A, Young B D, White H, Kumaran T O, Galton D A
Blood. 1986 Oct;68(4):957-60.
We studied the clinical, hematologic, cytogenetic, and molecular biologic features of seven patients with Philadelphia (Ph1) chromosome-negative chronic myeloid leukemia (CML). In five cases the hematologic findings were indistinguishable from those of patients with classical Ph1-positive disease. Myeloid cells were studied by chromosome-banding techniques. One patient had a masked Ph1 chromosome (with translocation t(4;9;22)), one had a deletion involving chromosome 16, and one had a small minority population of 22q- cells without 9q+ but otherwise normal metaphases; metaphases from the other four patients were entirely normal. DNA prepared from the myeloid cells was digested with the restriction enzymes EcoRI, HindIII, BamHI and BglII. Southern analysis using a 0.6-kb fragment of the breakpoint cluster region (bcr) gene showed the presence in each patient's DNA of a germline fragment together with a rearranged fragment or fragments with at least one of the restriction enzymes. We conclude that genomic changes in the bcr gene characteristic of CML can be present in the absence of a Ph1 chromosome.
我们研究了7例费城（Ph1）染色体阴性慢性髓性白血病（CML）患者的临床、血液学、细胞遗传学和分子生物学特征。在5例患者中，血液学检查结果与典型Ph1阳性疾病患者难以区分。采用染色体显带技术对髓系细胞进行研究。1例患者有隐匿性Ph1染色体（伴有t(4;9;22)易位），1例患者有涉及16号染色体的缺失，1例患者有少数22q-细胞群，无9q+，但其他中期相正常；其他4例患者的中期相完全正常。用限制性内切酶EcoRI、HindIII、BamHI和BglII消化从髓系细胞制备的DNA。使用断裂点簇集区（bcr）基因的0.6kb片段进行Southern分析显示，在每个患者的DNA中均存在一个种系片段以及一个或多个经至少一种限制性内切酶酶切后重排的片段。我们得出结论，在没有Ph1染色体的情况下，CML特征性的bcr基因基因组变化也可能存在。
