■慢性粒细胞白血病(CML)是一种克隆性骨髓增殖性肿瘤,其遗传特征是存在费城(Ph)染色体。已在5%至10%的CML病例中观察到变异的Ph易位。在以前的研究中,已观察到许多不同类型的变异Ph易位,涉及染色体1p36、3p21、5q13、6p21、9q22、11q13、12p13、17p13和10p15。根据已发表的文献,仅报道了2例涉及16号染色体长臂q24带的复杂易位病例。我们报告了两名女性患者在断点q24处涉及9、22和16号染色体的复杂易位(三向),两名患者对伊马替尼的反应良好。本研究包括469例临床诊断为CML的患者,他们被转诊到我们的实验室进行细胞遗传学分析。通过GTG显带进行细胞遗传学分析,核型是根据国际人类细胞遗传学命名系统指定的。对复杂和变异的BCR-ABL病例进行荧光原位杂交(FISH)分析。在总共469例病例中,248例患者显示经典Ph染色体[t(9;22)(q34;q11.2)],198例正常,23例患者有变异和复杂的Ph染色体易位。两名患者在9q34、22q11.2和16q24带处表现出涉及9、22和16号染色体长臂的三向易位。在这份报告中,与经典易位相比,Ph易位变异患者的结局没有显著差异.这两个病例对伊马替尼反应良好。
UNASSIGNED: Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm that is genetically characterized by the presence of the Philadelphia (Ph) chromosome. Variant Ph translocation has been observed in 5% to 10% of the CML cases. In the previous studies, many different types of variant Ph translocations have been observed involving chromosomes 1p36, 3p21, 5q13, 6p21, 9q22, 11q13, 12p13, 17p13, and 10p15. According to the published literature, only two cases with the complex translocations involving long arm of chromosome 16 at band q24 have been reported. We report two female patients with complex translocation (three-way) involving chromosomes 9, 22, and 16 at breakpoint q24 and both patients responded well to Imatinib. The present study included 469 patients of clinically diagnosed CML patients who were referred for cytogenetic analysis to our laboratory. Cytogenetic analysis was performed by GTG banding, and the karyotype was designated according to the International System for Human Cytogenetic Nomenclature. Fluorescence in situ hybridization (FISH) analysis was performed for complex and variant BCR-ABL cases. Of total 469 cases, 248 patients showed classical Ph chromosome [t(9;22)(q34;q11.2)], 198 cases were normal, and 23 patients had variant and complex Ph chromosome translocation. Two patients showed three-way translocation involving long arm of chromosomes 9, 22, and 16 at band 9q34, 22q11.2, and 16q24. In this report, patients with variant Ph translocation did not have a significantly different outcome as compared to the classical translocation. Both cases responded well to Imatinib.