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复杂核型作为高危慢性淋巴细胞白血病的预测指标:12 年单中心经验。

Complex karyotype as a predictor of high-risk chronic lymphocytic leukemia: A single center experience over 12 years.

机构信息

Department of Hemato-Oncology, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Olomouc, Czech Republic.

Department of Immunology, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Olomouc, Czech Republic.

出版信息

Leuk Res. 2019 Oct;85:106218. doi: 10.1016/j.leukres.2019.106218. Epub 2019 Aug 16.

DOI:10.1016/j.leukres.2019.106218
PMID:31476701
Abstract

OBJECTIVES

A complex karyotype (CK) is considered a poor prognostic marker in chronic lymphocytic leukemia (CLL).

METHODS

The study analyzed 644 untreated CLL patients (pts) using conventional/molecular cytogenetics to reveal the presence of a CK and its composition and to assess its predictive value. The mutational status ofTP53 was detected by next generation sequencing.

RESULTS

A CK was detected in 79 pts (12.3%). Patients with a CK showed shorter overall survival (OS) compared to those without a CK (77 months vs. 115 months, p < 0.0001). Chromosomes most frequently included in a CK were 13, 11, 17, 8, 2, and 6. The most common aberrations in a CK were translocations, numerical changes and dicentric chromosomes (with no effect on OS). Patients with aberrations ofTP53 and ATM were shown to have adverse prognosis comparable to patients with a CK without these abnormalities. A stronger impact of a CK on OS of female and older CLL patients was observed.

CONCLUSIONS

The determining of the presence of a CK is essential in modern clinical CLL practice. According to recent studies, the presence of a CK affects clinical and treatment decision-making.

摘要

目的

复杂核型(CK)被认为是慢性淋巴细胞白血病(CLL)的不良预后标志物。

方法

本研究使用常规/分子细胞遗传学分析了 644 例未经治疗的 CLL 患者,以揭示 CK 的存在及其组成,并评估其预测价值。通过下一代测序检测 TP53 的突变状态。

结果

在 79 例患者(12.3%)中检测到 CK。与没有 CK 的患者相比,具有 CK 的患者的总生存期(OS)更短(77 个月 vs. 115 个月,p<0.0001)。CK 中最常包含的染色体是 13、11、17、8、2 和 6。CK 中最常见的异常是易位、数目变化和双着丝粒染色体(对 OS 没有影响)。具有 TP53 和 ATM 异常的患者的预后与没有这些异常的 CK 患者相似。在女性和老年 CLL 患者中,CK 对 OS 的影响更强。

结论

在现代临床 CLL 实践中,确定 CK 的存在是至关重要的。根据最近的研究,CK 的存在会影响临床和治疗决策。

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Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities.
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Multi Cytogenetic Changes in a Patient as Co-Existing MDS and CLL Progresses.一名同时患有骨髓增生异常综合征(MDS)和慢性淋巴细胞白血病(CLL)的患者随着病情进展出现多种细胞遗传学改变。
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