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Imatinib: a breakthrough of targeted therapy in cancer.伊马替尼:癌症靶向治疗的一项突破。
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A new t(9;11;20;22)(q34;p11.2;q11.21;q11) in a Philadelphia-positive chronic myeloid leukemia case.一例费城染色体阳性慢性髓性白血病患者中出现的新的t(9;11;20;22)(q34;p11.2;q11.21;q11)。
Oncol Lett. 2013 Feb;5(2):605-608. doi: 10.3892/ol.2012.1039. Epub 2012 Nov 21.
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BCR translocation to derivative chromosome 2: a new case of chronic myeloid leukemia with a complex variant translocation and Philadelphia chromosome.BCR基因易位至衍生染色体2:一例伴有复杂变异易位和费城染色体的慢性髓系白血病新病例。
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Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report.费城染色体阳性慢性髓系白血病中涉及5条不同染色体的新型复杂易位:1例报告
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A complex translocation t(5;9;22) in Philadelphia cells involving the short arm of chromosome 5 in a case of chronic myelogenous leukemia.在一例慢性髓性白血病患者的费城细胞中发现涉及5号染色体短臂的复杂易位t(5;9;22) 。
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Chronic myeloid leukaemia as a model of disease evolution in human cancer.慢性髓性白血病作为人类癌症疾病演变的模型。
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The minute chromosome (Phl) in chronic granulocytic leukemia.慢性粒细胞白血病中的微小染色体(Phl)
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Cytogenetic and molecular genetic evolution of chronic myeloid leukemia.慢性髓系白血病的细胞遗传学和分子遗传学演变
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Complex variant Philadelphia translocations involving the short arm of chromosome 6 in chronic myeloid leukemia.慢性髓性白血病中涉及6号染色体短臂的复杂变异型费城染色体易位
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慢性粒细胞白血病中涉及五条染色体的复杂染色体重排:一例报告。

Complex chromosomal rearrangements involving five chromosomes in chronic myelogenous leukemia: A case report.

作者信息

Fu Guo-Ning, Fan Hai-Ying, Han Xue-Jing, Xin Chun-Lei

机构信息

Department of Hematology, Jining No. 1 People's Hospital, Jining, Shandong 272011, P.R. China.

出版信息

Oncol Lett. 2016 Apr;11(4):2651-2653. doi: 10.3892/ol.2016.4275. Epub 2016 Feb 24.

DOI:10.3892/ol.2016.4275
PMID:27073533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4812147/
Abstract

The typical breakpoint cluster region/Abelson (BCR-ABL) fusion gene, which is located in the Philadelphia chromosome, in association with a complex translocation event is only observed in 2-10% of patients with chronic myelogenous leukemia (CML). CML is diagnosed based on the presence of splenomegaly, increased peripheral white blood cells and the expression of BCR-ABL. The present study reports the case of a patient with CML that possessed complex aberrations involving 5 chromosome translocations, which consisted of t(1;6)(p36.1;q25) and t(9;22;11)(q34;q11.2;q11). After 2 months of follow-up, the patient is in remission following treatment with imatinib (400 mg/day) and hydroxyurea (3,000 mg/day). The hematological parameters of the patient were significantly improved and the white blood cell count returned to normal (from 361.00×10 cells/l to 6.83×10cells/l; normal range, 3.50-9.50×10 cells/l). The results of the ultrasonic examination revealed that the presence of splenomegaly had disappeared, indicating that the treatment strategy was effective. According to the outcome of the treatment, hydroxyurea in combination with imatinib is recommended for use in similar cases of CML.

摘要

典型的断裂点簇集区/阿贝尔森(BCR-ABL)融合基因位于费城染色体上,与复杂的易位事件相关,仅在2%-10%的慢性髓性白血病(CML)患者中观察到。CML根据脾肿大、外周血白细胞增多以及BCR-ABL的表达来诊断。本研究报告了1例CML患者,其具有涉及5种染色体易位的复杂畸变,包括t(1;6)(p36.1;q25)和t(9;22;11)(q34;q11.2;q11)。经过2个月的随访,该患者在接受伊马替尼(400 mg/天)和羟基脲(3000 mg/天)治疗后处于缓解状态。患者的血液学参数显著改善,白细胞计数恢复正常(从361.00×10⁹细胞/升降至6.83×10⁹细胞/升;正常范围为3.50-9.50×10⁹细胞/升)。超声检查结果显示脾肿大已消失,表明该治疗策略有效。根据治疗结果,建议在类似CML病例中使用羟基脲联合伊马替尼。