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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.

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。

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