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关键词： 乳腺叶状肿瘤   生境成像   超声特征   良恶性鉴别  

摘要： 背景　乳腺叶状肿瘤（PTB）良恶性的手术策略及复发、转移风险差异显著，术前良恶性鉴别对治疗决策至关重要，传统超声诊断存在局限性，而超声生境成像在其良恶性鉴别中的效能尚未系统明确。目的　基于超声生境成像在鉴别PTB良恶性中的效能评估。方法　回顾性分析2014年9月—2024年6月间于陆军军医大学大坪医院经手术病理证实的102例PTB患者的临床及超声影像资料，根据病理诊断结果分为良性组（54例），交界性/恶性组（48例，包括交界性30例、恶性18例）。记录超声图像并使用ITK-SNAP软件手动勾画肿瘤感兴趣区（ROI），通过K-means聚类将ROI划分为3个生境亚区，利用PyRadiomics提取生境特征;经随机森林（RF）筛选保留最优特征并计算生境组学评分（Hab-score）构建生境模型，纳入单因素分析差异有统计学意义的常规超声变量构建常规超声模型，纳入常规超声特征及Hab-score构建联合模型，采用受试者工作特征曲线（ROC）及Delong检验比较各模型的诊断效能，使用决策曲线分析（DCA）评估模型的临床适用性。结果　两组最大直径、内部回声、边界、囊变比较，差异具有统计学意义（P<0.05）。纳入上述4个超声变量，构建常规超声模型;经RF筛选，最终保留7个生境特征（3个一阶特征，4个纹理特征）用于计算Hab-score，并构建生境模型;在上述4个常规超声变量基础上，进一步纳入Hab-score构建联合模型。常规超声模型、生境模型与联合模型鉴别良恶性叶状肿瘤的的AUC分别为0.718、0.725、0.799，Delong检验结果显示，联合模型的AUC高于常规超声模型、生境模型（P<0.05）;DCA曲线分析显示，联合模型在0.4~0.9阈值区间对PTB良恶性的鉴别具有最高的临床效益。结论　超声生境成像能有效应用于鉴别乳腺叶状肿瘤良恶性，结合常规超声，能进一步提升诊断效能，降低单一技术路径的漏诊、误诊风险，具有潜在的临床应用价值。

关键词： 胸部肿瘤   中药复方   放射性肺损伤   综述  

摘要： 目前全球各癌种治疗方案中放射治疗的应用已非常广泛。尽管胸部肿瘤放化疗及系统综合治疗方案疗效肯定，但临床应用中剂量递增却被放射性肺损伤（radiation-induced lung injury，RILI）这一关键不良反应限制。该不良反应的出现轻则患者生活质量骤降，重则直接危及生命。近年临床基础研究及荟萃分析证据提示中药复方若与放疗各期同步介入，可凭借多靶点和多通路协同阻断炎症级联与胶原沉积，既降低RILI发生率，又缓解已现呼吸道症状，兼具防治双重优势。文章系统梳理近五年中药复方在RILI的基础与临床研究，并汇总名老中医经验方。系统评述干预时机、分子机制及疗效评价体系，旨在为复方中药防治RILI的进一步规范化研究及应用提供可靠的循证参考。

关键词： 静脉用药调配中心   抗肿瘤药物   智能调配   环境残留  

摘要： 目的 探究抗肿瘤药物（ADs）智能调配模式与人工调配模式在成品输液质量与环境残留风险方面的差异，为智能调配模式的应用提供实践依据。方法 采用称重法、培养基罐装实验和光阻法分别检测成品输液调配剂量准确性、无菌性和不溶性微粒指标，评估两种模式下成品输液质量差异；采用高效液相色谱-质谱联用技术（HPLC-MS/MS）检测ADs在输液袋表面、人员防护物品及调配环境的残留，评估两种模式下ADs的环境残留风险差异。结果 机器组成品输液调配剂量误差绝对值低于人工组，但差异显著性受检测品种影响（顺铂：0.22%±0.19%VS1.56%±0.95%，P＜0.05；卡铂：0.28% ± 0.20%VS4.40% ± 0.61%，P＜0.05；伊立替康：1.83% ± 0.28%VS2.71% ± 2.42%，P＞0.05），机器组数据组内一致性更好；机器组与人工组均未检出细菌；机器组与人工组的不溶性微粒指标均满足《中国药典》2020版的规定。机器组在输液袋表面、人员防护物品与调配环境的ADs残留浓度均低于人工组，数据差异显著性受检测品种影响，机器组数据组内一致性均优于人工组。结论 智能调配模式为抗肿瘤药物调配提供了更精准、安全的解决方案，本研究对推动静脉用药调配中心智能调剂的发展具有重要意义。

关键词： 骨髓增生异常综合征   突变   诊断   预后   药物疗法   造血干细胞移植   骨髓增生异常肿瘤  

摘要： 分子遗传学在骨髓增生异常肿瘤( MDS) 患者的基因突变检测中的应用, 已从实验室研究走向临床应用, 改变了临床对 MDS 患者的诊断、治疗与疗效及预后判断标准, 也开启了临床对MDS 患者的分子靶向治疗新时代。笔者拟就 MDS 患者诊治中, 基于分子遗传学的 MDS 分型及患者预后积分与疗效预测系统, 以及以分子遗传学为基础的分子靶向治疗的研究现状及存在的问题进行阐述, 旨在为分子遗传学在 MDS 患者诊治中的应用提供新见解。

关键词： Acute myeloid leukemia   Leukemic transformation   Mutation   Myelodysplastic neoplasm/Myelodysplastic syndrome   Prognosis  

摘要： 目的: 分析伴急性髓系白血病(AML)样突变的骨髓增生异常肿瘤(MDS)患者的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1 464例初治成人原发性MDS患者病例资料,回顾性分析伴AML样突变MDS患者临床、分子学特征以及预后情况。 结果: 共64例(4.4%)患者伴有AML样突变。与无AML样突变患者相比,伴AML样突变患者年龄更小[50(39, 60)岁对56(45, 65)岁,P=0.001],女性比例更高(51.6%对35.4%,P=0.009),骨髓原始细胞比例更高[6.5%(3.0%, 10.5%)对2.5%(1.0%, 7.0%),P<0.001],正常核型比例更高(75.0%对48.1%,P<0.001),外周血HGB水平更低[73(67, 82)g/L对80(66, 98)g/L,P=0.006]。伴AML样突变组和无AML样突变组中位基因突变数目分别为3(2,4)、2(1,3)个,差异有统计学意义(P<0.001)。伴AML样突变组NPM1、DNMT3A、WT1、PTPN11、NRAS、BCOR、FLT3、CEBPA、MYC基因突变率显著高于无AML样突变组(均P<0.05),而U2AF1、ASXL1和TP53基因突变率较低(均P<0.05)。伴AML样突变患者总生存(OS)期与无AML样突变患者相比差异无统计学意义(P=0.730),中位无白血病生存(LFS)期显著缩短[19(95%CI:13~25)个月对46(95%CI:38~54)个月,P=0.012],AML转化率显著增高[2年:(41.7±9.1)%对(10.4±1.1)%,P<0.001]。按原始细胞比例分组后,低原始细胞(LB)和原始细胞增多(IB)患者OS、LFS及AML转化率差异均无统计学意义。多因素Cox分析显示,年龄≥60岁和PTPN11突变是影响伴AML样突变患者OS的独立危险因素;DNMT3A突变、PTPN11突变、FLT3突变是伴AML样突变患者发生AML转化的独立危险因素。 结论: 伴AML样突变的MDS患者具有独特的临床和分子学特征,并表现出更高的AML转化风险。.;Objective: To investigate the clinical, laboratory, and prognostic features of myelodysplastic neoplasm (MDS) patients harboring acute myeloid leukemia (AML) -like mutations. Methods: We retrospectively analyzed clinical, molecular, and outcome data from 1 464 adults with primary MDS diagnosed at the Institute of Hematology and Blood Diseases Hospital from August 2016 to June 2024. Results: AML-like mutations were detected in 64 patients (4.4% ). Compared with patients without AML-like mutations, those with AML-like mutations were younger [median 50 (IQR 39-60) vs 56 (45, 65) years;P=0.001], more often female (51.6% vs 35.4%;P=0.009), had higher bone marrow blast percentage [6.5% (3.0%, 10.5% ) vs 2.5% (1.0%, 7.0% );P<0.001], a higher rate of normal karyotype (75.0% vs 48.1%;P<0.001), and lower hemoglobin levels [73 (67, 82) g/L vs 80 (66, 98) g/L;P=0.006]. The AML-like group had a higher number of gene mutations than the non-AML-like group [3 (IQR 2-4) vs 2 (1, 3);P<0.001). It was enriched for mutations in NPM1, DNMT3A, WT1, PTPN11, NRAS, BCOR, FLT3, CEBP

关键词： Azacitidine   Lenalidomide   Myelodysplastic neoplasm   TP53 mutation   Treatment outcome  

摘要： 目的: 探索应用阿扎胞苷联合来那度胺治疗伴TP53突变的骨髓增生异常肿瘤(myelodysplastic neoplasms, MDS)患者的有效性和安全性;初步探索治疗有效的潜在机制。 方法: 纳入2021年1月至2025年6月于东南大学附属中大医院就诊并接受阿扎胞苷联合来那度胺治疗的伴TP53突变的16例MDS患者,评估疗效和安全性;分析TP53突变与治疗反应的相关性;通过转录组测序和生物信息学分析技术初步探索治疗有效相关分子标志物。 结果: 16例MDS患者中男性8例,女性8例,中位年龄69.5(52~82)岁,分子国际预后积分系统(molecular international prognostic scoring system, IPSS-M)中低危1例、高危2例、极高危13例。16例TP53突变患者中双打击突变11例,单打击突变5例。9例患者治疗有效,总体有效率(Overall response rate, ORR)为56.3%,复合完全缓解率(Composite complete remission,CRc)为31.3%(5/16),血液学改善率为25.0%(4/16)(其中贫血改善1例,贫血及血小板减少改善2例,中性粒细胞减少改善1例)。治疗有效组患者治疗后TP53突变中位等位基因突变频率(Variant allele frequency, VAF)显著低于治疗前[16.5%(0~83.9%)对65.6%(20.4%~93.4%),P=0.017]。复杂核型伴TP53突变治疗有效率为53.8%(7/13),且57.1%(4/7)治疗后复杂核型消失。最常见的3/4级非血液学不良反应为感染(9/16,56.3%),包括肺炎(4/16,25.0%)、消化道感染(3/16,18.8%)、肛周感染(1/16,6.3%)和血流感染(1/16,6.3%)。初步机制研究显示,TP53患者应用阿扎胞苷联合来那度胺治疗有效可能与CBX8基因高表达相关。 结论: 阿扎胞苷联合来那度胺可有效治疗伴TP53突变MDS患者,安全性和耐受性良好。在治疗有效患者中可显著降低TP53突变VAF。治疗前CBX8基因高表达可能与TP53突变患者治疗起效相关。.;Objective: To assess the efficacy and safety of azacitidine combined with lenalidomide in MDS patients and explore potential mechanisms of therapeutic response. Methods: Sixteen MDS patients with TP53 mutations received azacitidine plus lenalidomide at ZhongDa Hospital, Southeast University (January 2021-June 2025). Efficacy and safety were assessed, and TP53 mutation status was correlated with treatment response. Whole-transcriptome sequencing and bioinformatics were used to explore molecular biomarkers associated with therapeutic efficacy. Results: Sixteen patients (median age 69.5 years, range 52-82;8 males, 8 females) were enrolled. According to the Molecular International Prognostic Scoring System (IPSS-M), 1, 2, and 13 patients were classified as median low, high, and very high risk, respectively. Among 16 TP53-mutated patients, 11 had biallelic mutations and 5 had monoallelic mutations. Overall response rate was 56.3% (9/16), composite complete remission rate (CRc) was 31.3% (5/16), and hematology improvement rate was 25% (4/16). Among TP53-

关键词： 肿瘤科护士   安全胜任力   文化智力   伦理敏感性   影响因素  

摘要： 目的 探讨肿瘤科护士患者安全胜任力现状及影响因素，为制订相关干预措施提供参考依据。方法 2024年6—10月，采用便利抽样法，选取我国10个省份1046名肿瘤科护士为研究对象，采用一般资料调查问卷、患者安全胜任力量表、文化智力量表、伦理敏感性量表进行横断面调查。结果 共回收问卷1046份，有效问卷974份，有效回收率为93.1%。肿瘤科护士患者安全胜任力得分为（146.39±18.35）分、文化智力得分为(97.67±20.56)分、伦理敏感性得分为(41.68±6.59)分。多重线性回归分析结果显示，医护合作关系、文化智力、伦理敏感性是肿瘤科护士患者安全胜任力的影响因素（P＜0.05），可共同解释患者安全胜任力水平29.7%的变异度。结论 肿瘤科护士患者安全胜任力水平有待提高，护理管理者需聚焦肿瘤科护士的实际需求，积极促进医护间的有效协作，采取有效干预策略提升肿瘤科护士文化智力、伦理敏感性，从而增强肿瘤科护士的患者安全胜任力，保障患者安全。

关键词： 去中心化临床试验   以患者为中心   伦理审查   数字健康技术  

摘要： 人工智能、大数据领域的发展，加速了去中心化临床试验的探索，未来其与传统临床试验模式互为补充，是一种必然趋势。由于抗肿瘤药物临床试验前期调研及方案设计更为复杂，“去中心化”的实施需要各方明确职权、加强沟通协作，开展充分培训，并循序推进医疗资源的整合与共享，以此推动新的质量与风险管理框架的建立。同时，伦理委员会应重点审查及评估“去中心化”临床试验项目方案设计的科学性、可行性及研究风险可控性；知情同意规范的落实；安全性事件报告与跟踪审查的管理；参与者个人信息与隐私保护；采用相应的伦理审查程序，提升伦理委员会成员对审查项目的风险识别及处理能力，并引导研究者遵循去中心化临床试验的规范，真正将“以价值为导向，以患者为中心”的理念落到实处，从而促进去中心化临床试验规范、高效开展。

摘要： This article reported on a case of unicentric chest wall Castleman disease, diagnosed by surgical pathology, which manifested primarily as oral mucosal erosions and bronchiolitis obliterans. The patient, a 25-year-old male, was admitted to the hospital on December 18, 2023, with an 11-month history of oral mucosal erosions and an 8-month history of dyspnea with reduced exercise tolerance. Pulmonary function tests revealed extremely severe obstructive ventilatory dysfunction with a negative bronchodilator response. Chest computed tomography (CT) scan showed a soft-tissue mass in the deep muscle layer of the left chest wall with enhancement. PET/CT demonstrated slightly increased metabolic activity at this site, with a maximum standardized uptake value (SUVmax) of 2.1. Additionally, the patient tested positive for BP-180 pemphigoid antibody. Taken together, the constellation of these findings could be explained by a unifying diagnosis, with histopathological confirmation being key. Surgical pathology of the chest wall mass confirmed the diagnosis of Castleman disease (hyaline vascular type). Ultimately, the patient was diagnosed with unicentric chest wall Castleman disease-associated paraneoplastic autoimmune multiorgan syndrome and successfully underwent bilateral lung transplantation approximately one year after diagnosis. 2025, Chinese Medical Association

关键词： Autosomal recessive inheritance   Genetic variant   Xeroderma pigmentosum   XPCgene  

摘要： Objective To explore the clinical presentation and genetic etiology of a case with Xeroderma pigmentosum in conjunct with basal cell carcinoma and melanoma. Methods A male patient with Xeroderma pigmentosum treated at Xinxiang Central Hospital in October 2022 was selected as study subject. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing of his family members. This study was approved by the Ethics Committee of the Xinxiang Central Hospital (Ethics No.: 2021-167). Results Magnetic resonance imaging showed that the patient has a solid soft tissue mass in the anterior and lower part of his right eyeball and a small nodule on the left nasal wing. Histopathological biopsy showed that the periocular tumor was basal cell carcinoma in conjunct with malignant melanoma, and the nasal wing tumor was basal cell carcinoma. WES and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XPC gene, namely c. 2391delT (p.F797Lfs*11) and IVS1+ 1G>A, which were inherited from his father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were rated as likely pathogenic (PVS1+ PM2_Supporting+ PM3) and pathogenic (PVS1+ PM2_Supporting+ PM3+ PP5), respectively. The c. 2391delT variant was unreported previously. Bioinformatic analysis suggests that it could significantly affect the tertiary structure of XPC protein. Conclusion The c. 2391delT(p.F797Lfs*11) and IVS1+ 1G>A compound heterozygous variants probably underlay the pathogenesis in this patient. The detection of the novel variant has enriched the mutational spectrum of the XPC gene. 2025, Chinese Medical Association