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中国665例骨髓增生异常综合征患者的细胞遗传学特征:一项单中心报告。

Cytogenetic characteristics of 665 patients with myelodysplastic syndrome in China: A single-center report.

作者信息

Wang Xueying, Liu Weiyi, Wang Mingjing, Fan Teng, Li Yumeng, Guo Xiaoqing, Yang Xiupeng, Wang Hongzhi, Xiao Haiyan, Zhang Shanshan, Quan Richeng, Liu Chi, Tang Xudong, Lv Yan, Chen Zhuo, Li Liu, Xu Yonggang, Ma Rou, Hu Xiaomei

机构信息

Graduate School, Beijing University of Chinese Medicine, Beijing 100029, P.R. China.

Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing 100091, P.R. China.

出版信息

Oncol Lett. 2021 Feb;21(2):126. doi: 10.3892/ol.2020.12387. Epub 2020 Dec 17.

Abstract

The karyotype is highly important for diagnosis and prognosis in myelodysplastic syndrome (MDS). The objective of the present study was to investigate the cytogenetic characteristics of patients with MDS in China. The karyotypes of 665 Chinese patients with MDS were analyzed, and it was identified that 298 cases (298/665, 44.8%) had abnormal karyotypes. Among the 298 patients with abnormal karyotypes, the 75 patients with trisomy 8 (+8) constituted the most common subset (75/298, 25.2%). The incidence of abnormal karyotypes was significantly higher in patients who were ≥51 years old compared with those <51 years old, (54.8 vs. 34.7%, respectively; P<0.05). Based on World Health Organization (WHO) classification-based Prognostic Scoring System (WPSS) criteria, the incidence of poor-prognosis karyotypes was significantly higher (17.4 vs. 5.4%; P<0.05) in the older patient group, and based on the Revised International Prognostic Scoring System (IPSS-R) criteria, the incidence of poor-/very poor-prognosis karyotypes was also significantly higher (17.4 vs. 6.6%; P<0.05) in patients ≥51 years old compared with younger ones. Based on the WHO classification of MDS subtypes, the incidence of abnormal karyotypes in patients with high percentages of bone marrow (BM) blasts [excess blasts (EB)-I + EB-II, ≥5% blasts] was significantly higher than that in patients with low percentages of BM blasts (those with single lineage dysplasia + multilineage dysplasia, <5% blasts) (62.5 vs. 36.0%; P<0.05). The incidence of poor-prognosis karyotypes based on WPSS criteria was significantly higher in patients with high percentages of BM blasts than those with low percentages (22.0 vs. 6.9%, respectively; P<0.05), and the incidence of poor-/very poor-prognosis karyotypes based on IPSS-R criteria was also significantly higher (23.0 vs. 7.4%, respectively; P<0.05). These results demonstrate that +8 is the most common abnormal karyotype in Chinese patients with MDS. Age and the percentage of BM blasts are associated with the incidence of both abnormal karyotypes and karyotypes with poor prognosis. The results of cytogenetic abnormalities in this study will supplement the data on patients of MDS in China.

摘要

核型对于骨髓增生异常综合征(MDS)的诊断和预后极为重要。本研究的目的是调查中国MDS患者的细胞遗传学特征。分析了665例中国MDS患者的核型,发现298例(298/665,44.8%)有异常核型。在这298例核型异常的患者中,75例8号染色体三体(+8)患者构成最常见的亚组(75/298,25.2%)。≥51岁患者的异常核型发生率显著高于<51岁的患者(分别为54.8%和34.7%;P<0.05)。根据世界卫生组织(WHO)基于分类的预后评分系统(WPSS)标准,老年患者组中预后不良核型的发生率显著更高(17.4%对5.4%;P<0.05),并且根据修订的国际预后评分系统(IPSS-R)标准,≥51岁患者中预后不良/极差核型的发生率也显著高于年轻患者(17.4%对6.6%;P<0.05)。根据WHO对MDS亚型的分类,骨髓(BM)原始细胞百分比高的患者[过多原始细胞(EB)-I+EB-II,原始细胞≥5%]的异常核型发生率显著高于BM原始细胞百分比低的患者(单纯谱系发育异常+多谱系发育异常,原始细胞<用5%)(62.5%对36.0%;P<0.05)。根据WPSS标准,BM原始细胞百分比高的患者中预后不良核型的发生率显著高于百分比低的患者(分别为22.0%和6.9%;P<0.05),并且根据IPSS-R标准,预后不良/极差核型的发生率也显著更高(分别为23.0%和7.4%;P<0.05)。这些结果表明,+8是中国MDS患者中最常见的异常核型。年龄和BM原始细胞百分比与异常核型以及预后不良核型的发生率相关。本研究的细胞遗传学异常结果将补充中国MDS患者的数据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1db/7798047/8ed230d9b592/ol-21-02-12387-g00.jpg

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