首页> 外文期刊>Frontiers in Oncology >A Novel Four-Way Complex Variant Translocation Involving Chromosome 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) in a Chronic Myeloid Leukemia Patient
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A Novel Four-Way Complex Variant Translocation Involving Chromosome 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) in a Chronic Myeloid Leukemia Patient

机译:一种新型的四向复杂变体易位,涉及慢性粒细胞白血病患者的染色体46,XY,t(4; 9; 19; 22)(q25:q34; p13.3; q11.2)

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摘要

Philadelphia (Ph) chromosome (9;22)(q34;q11) is well established in more than 90% of chronic myeloid leukemia (CML) patients, and the remaining 5–8% of CML patients show variant and complex translocations, with the involvement of third, fourth, or fifth chromosome other than 9;22. However, in very rare cases, the fourth chromosome is involved. Here, we found a novel case of four-way Ph+ chromosome translocation involving 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) with CML in the chronic phase. Complete blood cell count of the CML patient was carried out to obtain total leukocytes count, hemoglobin, and platelets. Fluorescence in situ hybridization technique was used for the identification of BCR–ABL fusion gene, and cytogenetic test for the confirmation of Ph (9;22)(q34;q11) and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with a dose of 400?mg/day imatinib mesylate (Gleevec). We observed a significant decrease in white blood cell count of 11.7?×?10~(9)/L after 48-month follow-up. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue, and anxiety.
机译:在超过90%的慢性粒细胞白血病(CML)患者中,费城(Ph)染色体(9; 22)(q34; q11)已经完全确立,其余5–8%的CML患者显示出变异和复杂的易位, 9、22以外的第三,第四或第五条染色体受累; 22。但是,在极少数情况下,涉及第四条染色体。在这里,我们发现了一种新型的四向Ph +染色体易位案例,涉及慢性期伴有CML的46,XY,t(4; 9; 19; 22)(q25:q34; p13.3; q11.2)。对CML患者进行全血细胞计数,以获得总白细胞计数,血红蛋白和血小板。荧光原位杂交技术用于鉴定BCR-ABL融合基因,并通过细胞遗传学检测来确定Ph(9; 22)(q34; q11)以及骨髓中变体易位的机制。每天用400?mg甲磺酸伊马替尼(Gleevec)成功治疗该患者。在48个月的随访中,我们观察到白细胞计数显着减少了11.7××10 10(9)/ L。病人一般开始感觉好些。身体肿胀,疲劳和焦虑有所减轻。

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