Bakshi Sonal R
Department of Cancer Biology, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad 380016, India.
J Assoc Genet Technol. 2008;34(2):49-51.
The Philadelphia chromosome is found in more than 90 percent of chronic myeloid leukemia (CML) patients. In most cases, it results from the reciprocal t(9;22)(q34;q11), with the ABL proto-oncogene from 9q34 fused to the breakpoint cluster region (BCR) locus on 22q11. In 5 to 10 percent of patients with CML, the Ph originates from variant translocations, involving various breakpoints in addition to 9q34 and 22q11. Here we report a rare case of a Philadelphia positive CML patient carrying t(5;9)(q13;q34) and deletion of ABL/BCR on der(9) as a separate event.
超过90%的慢性髓性白血病（CML）患者存在费城染色体。在大多数情况下，它源于相互易位t(9;22)(q34;q11)，9号染色体长臂3区4带的ABL原癌基因与22号染色体长臂1区1带的断裂簇区域（BCR）基因座融合。在5%至10%的CML患者中，费城染色体源于变异易位，除了9q34和22q11外还涉及各种断点。在此，我们报告一例罕见的费城染色体阳性CML患者，其携带t(5;9)(q13;q34)，并且作为一个独立事件，9号衍生染色体上的ABL/BCR发生缺失。
