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骨髓增生异常综合征中的细胞遗传学克隆演变与预后不良相关。

Cytogenetic clonal evolution in myelodysplastic syndromes is associated with inferior prognosis.

机构信息

Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine University, Dusseldorf, Germany.

Institute for Medical Information Sciences, Biometry and Epidemiology, Ludwig-Maximilians University, Munich, Germany.

出版信息

Cancer. 2017 Dec 1;123(23):4608-4616. doi: 10.1002/cncr.30917. Epub 2017 Jul 26.

Abstract

BACKGROUND

The karyotype of bone marrow cells at the time of diagnosis is a strong prognostic parameter for overall survival as well as acute myeloid leukemia (AML) progression in patients with myelodysplastic syndromes (MDS). However, to the authors' knowledge, few data exist regarding the prognostic impact of cytogenetic clonal evolution during the course of MDS.

METHODS

The authors evaluated follow-up karyotype analyses in 549 patients from the Dusseldorf MDS Registry.

RESULTS

Clonal evolution was detectable in 24% of the entire cohort and in 18% of 294 patients receiving best supportive care. The authors noted a clear adverse effect of clonal evolution on the risk of leukemic transformation (hazard ratio, 2.233; P = .036) and overall survival (hazard ratio, 3.677; P<.001). The authors also analyzed the prognostic influence of subclones detectable at the time of diagnosis. Again, such a finding was associated with a significantly shorter overall survival and a higher 5-year-probability of acute myeloid leukemia progression (30% vs 22%).

CONCLUSIONS

The results of the current study support the belief that follow-up karyotype analyses should be performed, especially in patients with lower-risk and intermediate-risk MDS, to identify those patients who are at higher risk of disease progression and therefore might benefit from earlier or more intensive treatment. Cancer 2017;123:4608-4616. © 2017 American Cancer Society.

摘要

背景

骨髓细胞的核型在诊断时是整体存活率以及骨髓增生异常综合征(MDS)患者中急性髓性白血病(AML)进展的一个强有力的预后参数。然而,据作者所知,关于 MDS 病程中细胞遗传学克隆演变的预后影响的数据很少。

方法

作者评估了杜塞尔多夫 MDS 登记处的 549 名患者的后续核型分析。

结果

整个队列中有 24%可检测到克隆演变,在接受最佳支持治疗的 294 名患者中有 18%可检测到。作者注意到克隆演变对白血病转化(危险比,2.233;P =.036)和整体存活率(危险比,3.677;P<.001)的风险有明显的不利影响。作者还分析了在诊断时可检测到的亚克隆的预后影响。同样,这种发现与较短的整体存活率和更高的 5 年 AML 进展概率相关(30%比 22%)。

结论

本研究的结果支持这样一种信念,即应进行后续核型分析,特别是在低风险和中危 MDS 患者中,以识别那些疾病进展风险较高的患者,从而可能受益于更早或更强化的治疗。癌症 2017;123:4608-4616。©2017 美国癌症协会。

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