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关键词： 脑肿瘤分割   空间-频域结合   边界损失   多尺度注意力   傅里叶卷积  

关键词： CNN-Mamba   多模态脑肿瘤影像分割   状态空间模型   多尺度融合   数据增强  

关键词： Chromosome 1   Mutational profile   Myelodysplastic neoplasms   Prognosis  

摘要： 目的: 分析伴1号染色体异常的骨髓增生异常肿瘤(MDS)患者临床和实验室特征及预后。 方法: 收集2016年8月至2024年6月于中国医学科学院血液病医院确诊的1 498例MDS初治患者病例资料,回顾性分析伴1号染色体异常的MDS患者临床特征、分子学等实验室特征以及总生存(OS)情况。 结果: 伴1号染色体异常患者共128例(8.54%),其中1q三体最为常见(85例,66.4%)。非1q三体患者较1q三体患者的骨髓原始细胞比例(5.0%对2.5%,P=0.030)、TP53突变检出率(30.2%对12.9%,P=0.033)及TP53中位等位基因突变频率(VAF)(46.7%对19.7%,P=0.034)均显著增高。伴1号染色体异常患者的OS时间[29(95% CI:17~41)个月]与不伴1号染色体异常患者[34(95% CI:25~43)个月]相比差异无统计学意义(P=0.800)。伴1号染色体异常患者中,1q三体与非1q三体两组患者中位OS时间分别为58(95% CI:24~107)个月和10(95% CI:5~15)个月,差异有统计学意义(P=0.005)。多因素分析示,原始细胞增多(IB)(HR=2.23,95% CI:1.10~4.54,P=0.027)、SF3B1突变(HR=5.61,95% CI:2.06~15.29,P=0.001)是影响伴1号染色体异常MDS患者生存的独立不良预后因素。 结论: 伴1号染色体异常的MDS患者中,1q三体与低原始细胞和低TP53突变检出率及VAF值相关,1q三体组OS时间显著延长。IB、SF3B1突变是影响伴1号染色体异常MDS患者生存的独立不良预后因素。.;Objective: To characterize the clinical and molecular features and evaluate the prognostic outcomes of patients with myelodysplastic neoplasms (MDS) with chromosome 1 abnormalities. Methods: We retrospectively analyzed 1 498 newly diagnosed MDS patients treated at the Institute of Hematology, Chinese Academy of Medical Sciences from August 2016 to June 2024. The clinical features, molecular characteristics, and overall survival (OS) of patients with chromosome 1 abnormalities were analyzed. Results: Chromosome 1 abnormalities were identified in 128 patients (8.54%), with 1q trisomy representing the most frequent cytogenetic alteration (85 cases, 66.4%). Compared to 1q trisomy patients, non-1q trisomy patients demonstrated significantly higher bone marrow blast percentages (5.0% vs 2.5%, P=0.030), TP53 mutation rates (30.2% vs 12.9%, P=0.033), and median TP53 variant allele frequencies (VAF) (46.7% vs 19.7%, P=0.034). No significant difference in OS was observed between patients with and without chromosome 1 abnormalities [29 (95% CI: 17-41) months vs 34 (95%CI: 25-43), P=0.800]. However, among patients with chromosome 1 abnormalities, the 1q trisomy patients showed markedly superior median OS compared to the non-1q trisomy patients [58 (95% CI: 24-107) vs 10 (95%

关键词： 肾肿瘤   肾功能   肾部分切除术   并发症  

摘要： 骨髓增生异常肿瘤(MDS)是一组高度异质性髓系肿瘤,以血细胞减少、发育不良和高白血病转化风险为特征。二代测序(NGS)技术可高效检测基因突变,已被纳入MDS的诊断分型、预后评估及治疗决策体系。为进一步规范NGS技术在MDS临床实践中的应用,中华医学会血液学分会白血病淋巴瘤学组在整合MDS最新诊治进展、国内外相关指南/共识及国内专家建议的基础上,制定了本版专家共识,以推动NGS在我国MDS诊疗中的合理应用。.;Myelodysplastic neoplasms (MDS) are a group of highly heterogeneous myeloid malignancies characterized by cytopenia, dysplasia, and a high risk of leukemic transformation. Next-generation sequencing (NGS) technology enables efficient detection of gene mutations and has been incorporated into the diagnostic classification, prognostic assessment, and treatment decision-making systems for MDS. To further standardize the clinical application of NGS technology in MDS, Leukemia & Lymphoma Group, Chinese Society of Hematology, Chinese Medical Association have developed this expert consensus by integrating the latest advances in MDS diagnosis and treatment, relevant domestic and international guidelines/consensus recommendations, and expert opinions from China. The aim is to promote the rational use of NGS in the diagnosis and treatment of MDS in China.

关键词： 千金方   肿瘤辨治   配伍特色   寒温并用   补泻兼施   理气畅机  

关键词： Siglec-15   巨噬细胞   肿瘤细胞   免疫抑制微环境   预后   抗Siglec-15抗体  

关键词： 光热治疗   光热转换剂   分子工程   受体调控   抗肿瘤