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5/7号染色体单倍体核型是中国骨髓增生异常综合征患者独立的不良预后因素。

Monosomal karyotype of chromosome 5/7 was an independent poor prognostic factor for Chinese myelodysplastic syndrome patients.

作者信息

Zhang Tongtong, Xu Yang, Pan Jinlan, Qiu Huiying, Wu Depei, Chen Suning, Sun Aining

机构信息

Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.

Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.

出版信息

Cancer Genet. 2016 Sep;209(9):423-429. doi: 10.1016/j.cancergen.2016.06.007. Epub 2016 Jun 23.

Abstract

Monosomal karyotype (MK) was defined as the presence of at least 2 autosomal monosomies or of a single monosomy associated with at least one additional structural abnormality. 6.4-16.3% myelodysplastic syndrome (MDS) patients were reported to fulfill the criteria for MK and associated with poor prognosis in the majority of patients with MDS. In order to further clarify the prognostic significance of MK in Chinese MDS patients, 2080 primary patients were retrospectively analyzed in our center. MK was observed in 8.1% patients (168/2080), and monosomies of chromosome 5/7 were the most frequent types of MK. We further found that MK was significantly associated with elderly patients, higher bone marrow blasts and relatively poor cytogenetics. In addition, MDS patients with MK (n = 59) had poor survival than those without MK (n = 491) in total cohort (P < 0.001), and there was significant difference in the OS between the patients with MK (n = 56) and without MK (n = 53) in the relatively poor cytogenetics group (P = 0.0025). Incorporation of MK into IPSS-R could further stratify MDS patients into different prognostic groups (P < 0.001). Interestingly, monosomies of chromosome 5/7 rather than MK were significantly related to shorter OS (HR = 2.709, P < 0.001) by multivariate analysis. In conclusion, our results suggested that 8.1% MDS patients were presented with MK, and the incidence of MK increased with the number of cytogenetic abnormalities. Monosomies of chromosome 5/7 were the most frequent MK as well as an independent poor risk factor for OS in Chinese MDS patients.

摘要

单倍体核型(MK)定义为存在至少2条常染色体单体或一条单体合并至少一种其他结构异常。据报道,6.4%-16.3%的骨髓增生异常综合征(MDS)患者符合MK标准,且大多数MDS患者预后不良。为进一步明确MK在中国MDS患者中的预后意义,我们中心对2080例初治患者进行了回顾性分析。8.1%的患者(168/2080)观察到MK,5号/7号染色体单体是最常见的MK类型。我们进一步发现,MK与老年患者、较高的骨髓原始细胞比例及相对较差的细胞遗传学显著相关。此外,在整个队列中,伴有MK的MDS患者(n = 59)的生存期比不伴有MK的患者(n = 491)差(P < 0.001),在细胞遗传学相对较差的组中,伴有MK的患者(n = 56)和不伴有MK的患者(n = 53)的总生存期有显著差异(P = 0.0025)。将MK纳入国际预后评分系统修订版(IPSS-R)可进一步将MDS患者分层为不同的预后组(P < 0.001)。有趣的是,多因素分析显示,5号/7号染色体单体而非MK与较短的总生存期显著相关(风险比=2.709,P < 0.001)。总之,我们的结果表明,8.1%的MDS患者存在MK,且MK的发生率随细胞遗传学异常数量的增加而升高。5号/7号染色体单体是最常见的MK类型,也是中国MDS患者总生存期的独立不良危险因素。

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