Department of Biotechnology, BUITEMS, Quetta, Pakistan.
Office of Research Innovation and Commercialization, BUITEMS, Quetta, Pakistan.
Medicine (Baltimore). 2022 Nov 11;101(45):e31670. doi: 10.1097/MD.0000000000031670.
(9;22) (q34; q11) translocation is appear in above ninety percent of chronic myelogenous leukemia patients while variant/complex translocations were observed in almost 5% to 8% chronic myelogenous leukemia (CML) positive cases. Gleevec (Imatinib Mesylate) is the first choice breakpoint cluster region (BCR)/ABL targeted oral therapy that produced a complete response almost in 71% to 80% of patients affected with CML. A complete blood count (CBC) of 37 patients was done during diagnosis, however only 21 showed abnormal CBC values which were selected for the study. Karyotyping study using bone marrow samples was performed on 21 CML patients for the conformation of 9;22, however, fluorescence in situ hybridisation was performed for the detection of the BCR-ABL fusion gene of 15 patients. Out of 21, 17 patients showed Ph-positive (9;22) (q34; q11) translocation. Sixteen CML patients showed standard translocation however only CML patients showed a three-way variant/complex translocation with six additional chromosomes, 52XX, t(1;9;22) (q23.3;q34;q11),+6,+8, i(9)(q10;q10), +18,+19,+21 + der22 t(9;22)(q34;q11)). Here we report we report a novel case of six additional chromosomes with the three-way translocation of 52XX, t(1;9;22) (q23.3;q34;q11),+6,+8, i(9)(q10;q10), +18,+19,+21 + der22 t(9;22)(q34;q11) in blast phase.
（9；22）（q34；q11）易位出现在超过 90%的慢性髓性白血病患者中，而变异/复杂易位在近 5%至 8%的慢性髓性白血病（CML）阳性病例中观察到。格列卫（伊马替尼甲磺酸盐）是第一种选择的断裂点簇区（BCR）/ABL 靶向口服治疗药物，几乎对 71%至 80%的 CML 患者产生完全缓解。在诊断时对 37 名患者进行了全血细胞计数（CBC）检查，但只有 21 名显示异常 CBC 值的患者被选入该研究。对 21 名 CML 患者进行骨髓样本的核型研究以确认 9；22，然而，对 15 名患者进行荧光原位杂交以检测 BCR-ABL 融合基因。在 21 名患者中，有 17 名患者显示 Ph 阳性（9；22）（q34；q11）易位。16 名 CML 患者显示标准易位，但只有 CML 患者显示三向变异/复杂易位，伴有六个额外的染色体，52XX，t（1；9；22）（q23.3；q34；q11），+6，+8，i（9）（q10；q10），+18，+19，+21 + der22 t（9；22）（q34；q11）。在这里，我们报告了一个新的六额外染色体的三向易位病例，伴有 52XX，t（1；9；22）（q23.3；q34；q11），+6，+8，i（9）（q10；q10），+18，+19，+21 + der22 t（9；22）（q34；q11）在 blast 期。
