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易位,t(11;19)(q23;p13.1)和t(11;19)(q23;p13.3):53例患者的细胞遗传学和临床特征。欧洲11q23研讨会参与者。

The translocations, t(11;19)(q23;p13.1) and t(11;19)(q23;p13.3): a cytogenetic and clinical profile of 53 patients. European 11q23 Workshop participants.

作者信息

Moorman A V, Hagemeijer A, Charrin C, Rieder H, Secker-Walker L M

机构信息

Department of Haematology, Royal Free Hospital School of Medicine, London, UK.

出版信息

Leukemia. 1998 May;12(5):805-10. doi: 10.1038/sj.leu.2401016.

Abstract

The EU Concerted Action Workshop on 11q23 Abnormalities in Hematological Malignancies collected 550 patients with abnormalities involving 11q23. Of these, 53 patients had a translocation involving chromosome 11, breakpoint q23, and chromosome 19, breakpoint p13. Karyogram review enabled each patient to be further defined as t(11;19)(q23;p13.1) (21 patients) or t(11;19)(q23;p13.3) (32 patients). There was a marked difference between the type of banding and the translocation identified: t(11;19)(q23;p13.1) was detected predominantly by R-banding, whereas t(11;19)(q23;p13.3) was detected almost solely by G-banding. Additional change was extremely rare in patients with t(11;19)(q23;p13.1) but occurred in nearly half of the patients with t(11;19)(q23;p13.3). Patients with t(11;19)(q23;p13.1) all had leukemia of a myeloid lineage, mostly acute myeloid leukemia (AML), and were predominantly adult. In contrast patients with t(11;19)(q23;p13.3) had malignancies of both myeloid and lymphoid lineage and were mainly infants less than 1 year old. The survival of both groups of patients was generally poor, over 50% of t(11;19)(q23;p13.1) patients died within 2 years of diagnosis and the median survival of acute lymphoblastic leukemia (ALL) patients with t(11;19)(q23;p13.3) was 17.6 months.

摘要

欧盟血液系统恶性肿瘤11q23异常协同行动研讨会收集了550例涉及11q23异常的患者。其中,53例患者存在涉及11号染色体q23断点和19号染色体p13断点的易位。核型分析使每位患者能够进一步被定义为t(11;19)(q23;p13.1)(21例患者)或t(11;19)(q23;p13.3)(32例患者)。所识别的条带类型与易位之间存在显著差异:t(11;19)(q23;p13.1)主要通过R显带检测到,而t(11;19)(q23;p13.3)几乎仅通过G显带检测到。在t(11;19)(q23;p13.1)患者中,额外的改变极为罕见,但在近一半的t(11;19)(q23;p13.3)患者中出现。t(11;19)(q23;p13.1)患者均患有髓系白血病,大多为急性髓系白血病(AML),且以成年人为主。相比之下,t(11;19)(q23;p13.3)患者患有髓系和淋巴系恶性肿瘤,主要是年龄小于1岁的婴儿。两组患者的生存率总体都很差,超过50%的t(11;19)(q23;p13.1)患者在诊断后2年内死亡,t(11;19)(q23;p13.3)的急性淋巴细胞白血病(ALL)患者的中位生存期为17.6个月。

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