Zámecníkova Adriana, Al Bahar Soad, Ramesh Pandita
Laboratory of Cancer Genetics, Department of Hematology, Kuwait Cancer Control Center, 70653 Kuwait City, Kuwait.
Cancer Genet Cytogenet. 2008 Jun;183(2):109-13. doi: 10.1016/j.cancergencyto.2008.02.007.
Coexistence of two specific chromosomal translocations in the same clone is an infrequent phenomenon and has only rarely been reported in hematological malignancies. We report a combination of t(16;16)(p13;q22), the Philadelphia translocation t(9;22)(q34;q11.2), and deletion of the long arm of chromosome 7 in a patient with chronic myeloid leukemia in blast phase. Monotherapy treatment with imatinib mesylate resulted in the disappearance of the Ph-positive clone, but with persistence of t(16;16) and del(7) in all of the metaphases examined. The case illustrates that, although imatinib mesylate can be an effective treatment in eradication of the BCR-ABL fusion gene cells, the occurrence of additional specific abnormalities in Philadelphia-positive leukemias may pose a significant therapeutic challenge.
同一克隆中两种特定染色体易位并存是一种罕见现象，在血液系统恶性肿瘤中仅有极少报道。我们报告了1例处于急变期的慢性髓性白血病患者，存在t(16;16)(p13;q22)、费城染色体易位t(9;22)(q34;q11.2)以及7号染色体长臂缺失。甲磺酸伊马替尼单药治疗使Ph阳性克隆消失，但在所有检测的中期相中t(16;16)和del(7)持续存在。该病例表明，虽然甲磺酸伊马替尼可能是根除BCR-ABL融合基因细胞的有效治疗方法，但费城染色体阳性白血病中出现其他特定异常可能带来重大治疗挑战。
