Al-Achkar W, Wafa A, Nweder M S
Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission of Syria, Damascus, Syria.
J Exp Clin Cancer Res. 2007 Sep;26(3):411-5.
Chronic myelogenous leukemia (CML) is genetically characterized by the reciprocal translocation of chromosome 9 and 22, t(9;22)(q34;q11) which results in the fusion of BCR/ABL gene observed on the derivative chromosome 22 called Philadelphia (Ph') chromosome. About 5-8% of Philadelphia positive patients with CML show various complex translocations involving one or more other chromosomes, in addition to chromosome 9 and 22. In our report we discuss one case with CML, his cytogenetic study revealed a complex translocation t(5;9;22)(p15.1; q34; q11.2), del 5p15.1-->pter, translocation BCR(22q11.2-->qter) to der(5), positive Ph-chromosome and positive t(BCR\ABL). Further confirmation of complex translocation was done by FISH study using the LSI BCR/ABL dual color dual fusion (DF) translocation probe, chromosome 5 and 22 whole paint probes.
慢性粒细胞白血病（CML）的遗传学特征是9号和22号染色体相互易位，即t(9;22)(q34;q11)，这导致在衍生的22号染色体（称为费城染色体，即Ph'染色体）上观察到BCR/ABL基因融合。约5-8%的费城染色体阳性CML患者除了9号和22号染色体外，还表现出涉及一条或多条其他染色体的各种复杂易位。在我们的报告中，我们讨论了1例CML患者，其细胞遗传学研究显示存在复杂易位t(5;9;22)(p15.1; q34; q11.2)，5号染色体p15.1→pter缺失，BCR(22q11.2→qter)易位至衍生5号染色体，费城染色体阳性且t(BCR\ABL)阳性。使用LSI BCR/ABL双色双融合（DF）易位探针、5号和22号染色体全涂染探针进行荧光原位杂交（FISH）研究，进一步证实了复杂易位。
