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中国与西方骨髓增生异常综合征患者的临床、实验室特征及生存差异

[Differences in clinical and laboratory features and survival between Chinese and Western patients with myelodysplastic neoplasm].

作者信息

Liu L L, Li B, Qin T J, Xu Z F, Qu S Q, Pan L J, Gao Q Y, Jiao M, Ja Y J, Li C W, Sun Q, Wang H J, Xiao Z J

机构信息

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2025 Mar 14;46(3):223-230. doi: 10.3760/cma.j.cn121090-20241210-00555.

DOI:10.3760/cma.j.cn121090-20241210-00555
PMID:40355351
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12038469/
Abstract

To compare the clinical and laboratory characteristics and survival between Chinese and Western patients with myelodysplastic neoplasms (MDS) . Clinical and laboratory data were collected from 1,464 primary adult patients diagnosed with MDS at the Institute of Hematology & Blood Diseases Hospital from August 2016 to June 2024. Collected data were retrospectively analyzed and compared with 2,191 patients from the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM) . Chinese patients were significantly younger (median age: 56 years . 72 years, <0.001) and experienced more severe hematopenia (<0.001) compared with patients from the IWG-PM. Further, Chinese patients exhibited a higher percentage of isolated del (20q), +8, and complex karyotypes as well as a lower percentage of normal karyotypes, del (5q), and -Y (<0.001). Higher U2AF1, NRAS, and NPM1 mutation rates and lower ASXL1, SF3B1, and RUNX1 mutation rates were observed in Chinese patients than in participants from the IWG-PM (<0.05). No significant difference in overall survival (OS) was found between the two groups (median OS: 48 [95% : 40 - 56]months, . 45[95% : 40 - 49] months; =0.449). Among participants aged ≤45 years, Chinese patients demonstrated more trisomy 8 (=0.070) and U2AF1 mutation (<0.001) and higher 4-year OS rate compared with those from the IWG-PM (75.5% . 62.1%, =0.001). Among participants aged ≥70 years, Chinese patients exhibited more complex karyotypes but fewer del (5q) as well as more NPM1 but less SF3B1 and TET2 compared with those from the IWG-PM (<0.05). Chinese patients demonstrated shorter survival (median OS: 20 [95% : 13 - 27] months . 37 [95% : 32 - 42] months, <0.001) . Chinese and Western MDS patients differ in age of onset, clinical features, and cytogenetic or molecular genetic abnormalities, with significant differences persisting in age-matched groups. Although the OS is similar, disparities exist in survival for younger and older patients between the two populations.

摘要

比较中国和西方骨髓增生异常综合征(MDS)患者的临床和实验室特征及生存率。收集了2016年8月至2024年6月在血液学研究所暨血液病医院确诊为MDS的1464例成年初诊患者的临床和实验室数据。对收集到的数据进行回顾性分析,并与国际骨髓增生异常综合征预后工作组(IWG-PM)的2191例患者进行比较。与IWG-PM的患者相比,中国患者明显更年轻(中位年龄:56岁 vs. 72岁,<0.001),且血细胞减少更严重(<0.001)。此外,中国患者孤立性del(20q)、+8和复杂核型的比例更高,而正常核型、del(5q)和-Y的比例更低(<0.001)。与IWG-PM的参与者相比,中国患者的U2AF1、NRAS和NPM1突变率更高,而ASXL1、SF3B1和RUNX1突变率更低(<0.05)。两组的总生存期(OS)无显著差异(中位OS:48[95%CI:40-56]个月 vs. 45[95%CI:40-49]个月;P=0.449)。在年龄≤45岁的参与者中,与IWG-PM的患者相比,中国患者的8号三体更多(P=0.070)、U2AF1突变更多(<0.001),4年OS率更高(75.5% vs. 62.1%,P=0.001)。在年龄≥70岁的参与者中,与IWG-PM的患者相比,中国患者的复杂核型更多,但del(5q)更少,NPM1更多,但SF3B1和TET2更少(<0.05)。中国患者的生存期更短(中位OS:20[95%CI:13-27]个月 vs. 37[95%CI:32-42]个月,<0.001)。中国和西方的MDS患者在发病年龄、临床特征以及细胞遗传学或分子遗传学异常方面存在差异,在年龄匹配组中也存在显著差异。虽然总生存期相似,但这两个人群中年轻和老年患者的生存率存在差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f78e/12038469/5d3fc82afcc7/cjh-46-03-223-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f78e/12038469/900ad414bd22/cjh-46-03-223-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f78e/12038469/5d3fc82afcc7/cjh-46-03-223-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f78e/12038469/900ad414bd22/cjh-46-03-223-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f78e/12038469/5d3fc82afcc7/cjh-46-03-223-g002.jpg

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本文引用的文献

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[Analysis of Gene Mutation and Clinical Characteristics Related to Myelodysplastic Syndrome].[骨髓增生异常综合征相关基因突变及临床特征分析]
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IPSS-M has greater survival predictive accuracy compared with IPSS-R in persons ≥ 60 years with myelodysplastic syndromes.在年龄≥60岁的骨髓增生异常综合征患者中,与国际预后评分系统修订版(IPSS-R)相比,国际预后评分系统-骨髓(IPSS-M)具有更高的生存预测准确性。
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