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细胞遗传学风险分层结合微小残留病状态会影响多发性骨髓瘤的治疗结果和预后。

Cytogenetic risk stratification combined with minimal residual disease status influences the therapeutic outcome and prognosis of multiple myelomas.

作者信息

Mao Jianping, Xue Lianguo, Wang Haiqing, Zhou Hang, Zhu Yuanxin, Jia Tao, Cai Zhimei, Zhao Lina, Zhao Lidong, Wang Ying, Wang Juan

机构信息

Department of Hematology, The First People's Hospital of Lianyungang, The Affiliated Lianyungang Hospital of Xuzhou Medical University, The First Affiliated Hospital of Kangda College of Nanjing Medical University, Lianyungang Clinical College of Nanjing Medical University, No. 6 Zhenhua Road, Haizhou District, Lianyungang, 222000, Jiangsu, China.

Laboratory Department, The First People's Hospital of Lianyungang, The Affiliated Lianyungang Hospital of Xuzhou Medical University, The First Affiliated Hospital of Kangda College of Nanjing Medical University, Lianyungang Clinical College of Nanjing Medical University, Lianyungang, Jiangsu, China.

出版信息

Sci Rep. 2025 Apr 12;15(1):12545. doi: 10.1038/s41598-025-97125-w.

Abstract

To explore the value of cytogenetic risk stratification combined with minimal residual disease (MRD) status in predicting the therapeutic efficacy and prognosis for multiple myeloma (MM). From January 2017 to December 2023, 73 cases of newly diagnosed MM were recruited. Cytogenetic risks were stratified according to the results of fluorescence in situ hybridization (FISH); MRD status and clinical data were analyzed. The progression-free survival (PFS) and overall survival (OS), and their influencing factors were evaluated. During the median follow-up period of 30 (4-65) months, the median progression-free survival (PFS) and overall survival (OS) were 38 (95% CI 29.7, 46.3) months and 55 (95% CI 45.9, 64.1) months, respectively. In our cohort, the 3-year PFS rate was 51.0% and the 3-year OS rate was 71.0%. According to the MRD status, 31 MM patients were assigned to the MRD-positivity group and 42 to the MRD-negativity group. Significant differences were detected in the median PFS (30 months vs. 45 months, χ = 7.747, P = 0.005) and OS (34 months vs. 59 months, χ = 8.683, P = 0.003) between groups. Subgroup analyses based on the cytogenetic risk stratification (standard risk [SR] and high risk [HR]) showed that MM patients in the SR/MRD-negativity subgroup did not reach the median PFS and OS, and the median PFS (42 months vs. 33 months, P = 0.093) and OS (59 months vs. 42 months, P = 0.703) were similar between the SR/MRD-positivity and HR/MRD-negativity subgroups. In comparison to the HR/MRD-negativity subgroup, the median PFS (20 months vs. 33 months, P = 0.031) and OS (33 months vs. 42 months, P = 0.032) were significantly shorter in the HR/MRD-positivity group. Multivariate analysis showed that MRD-positivity was an independent risk factor for PFS (HR 2.874, 95% CI 1.452, 5.689; P = 0.008) and OS (HR 3.504, 95% CI 1.599, 7.676; P = 0.002) of MM. MRD status is a powerful prognostic indicator of PFS and OS in MM, but its performance is inferior to cytogenetic risk stratification. More high-risk cytogenetic abnormalities (HRCAs) indicate a worse prognosis of MM, while MRD-negativity improves HRCA-associated prognosis of MM. We recommend a risk stratification by assessing MRD status combined with HRCAs in MM patients, thus favoring the design of individualized treatment.

摘要

探讨细胞遗传学风险分层联合微小残留病(MRD)状态对多发性骨髓瘤(MM)治疗疗效和预后的预测价值。2017年1月至2023年12月,纳入73例新诊断的MM患者。根据荧光原位杂交(FISH)结果对细胞遗传学风险进行分层;分析MRD状态和临床数据。评估无进展生存期(PFS)和总生存期(OS)及其影响因素。在30(4 - 65)个月的中位随访期内,中位无进展生存期(PFS)和总生存期(OS)分别为38(95%CI 29.7,46.3)个月和55(95%CI 45.9,64.1)个月。在我们的队列中,3年PFS率为51.0%,3年OS率为71.0%。根据MRD状态,31例MM患者被分配到MRD阳性组,42例被分配到MRD阴性组。两组之间的中位PFS(30个月对45个月,χ = 7.747,P = 0.005)和OS(34个月对59个月,χ = 8.683,P = 0.003)存在显著差异。基于细胞遗传学风险分层(标准风险[SR]和高风险[HR])的亚组分析显示,SR/MRD阴性亚组的MM患者未达到中位PFS和OS,SR/MRD阳性亚组和HR/MRD阴性亚组之间的中位PFS(42个月对33个月,P = 0.093)和OS(59个月对42个月,P = 0.703)相似。与HR/MRD阴性亚组相比,HR/MRD阳性组的中位PFS(20个月对33个月,P = 0.031)和OS(33个月对42个月,P = 0.032)显著缩短。多因素分析显示,MRD阳性是MM患者PFS(HR 2.874,95%CI 1.452,5.689;P = 0.008)和OS(HR 3.504,95%CI 1.599,7.676;P = 0.002)的独立危险因素。MRD状态是MM患者PFS和OS的有力预后指标,但其性能不如细胞遗传学风险分层。更多的高危细胞遗传学异常(HRCA)表明MM的预后更差,而MRD阴性可改善与HRCA相关的MM预后。我们建议通过评估MM患者的MRD状态联合HRCA进行风险分层,从而有利于个体化治疗方案的设计。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d5c/11992232/9d1b0dd84a3f/41598_2025_97125_Fig1_HTML.jpg

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