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Latent Space Representational Learning of Deep Features for Acute Lymphoblastic Leukemia Diagnosis
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作者 Ghada Emam Atteia 《Computer Systems Science & Engineering》 SCIE EI 2023年第4期361-376,共16页
Acute Lymphoblastic Leukemia(ALL)is a fatal malignancy that is featured by the abnormal increase of immature lymphocytes in blood or bone marrow.Early prognosis of ALL is indispensable for the effectual remediation of... Acute Lymphoblastic Leukemia(ALL)is a fatal malignancy that is featured by the abnormal increase of immature lymphocytes in blood or bone marrow.Early prognosis of ALL is indispensable for the effectual remediation of this disease.Initial screening of ALL is conducted through manual examination of stained blood smear microscopic images,a process which is time-consuming and prone to errors.Therefore,many deep learning-based computer-aided diagnosis(CAD)systems have been established to automatically diagnose ALL.This paper proposes a novel hybrid deep learning system for ALL diagnosis in blood smear images.The introduced system integrates the proficiency of autoencoder networks in feature representational learning in latent space with the superior feature extraction capability of standard pretrained convolutional neural networks(CNNs)to identify the existence of ALL in blood smears.An augmented set of deep image features are formed from the features extracted by GoogleNet and Inception-v3 CNNs from a hybrid dataset of microscopic blood smear images.A sparse autoencoder network is designed to create an abstract set of significant latent features from the enlarged image feature set.The latent features are used to perform image classification using Support Vector Machine(SVM)classifier.The obtained results show that the latent features improve the classification performance of the proposed ALL diagnosis system over the original image features.Moreover,the classification performance of the system with various sizes of the latent feature set is evaluated.The retrieved results reveal that the introduced ALL diagnosis system superiorly compete the state of the art. 展开更多
关键词 Autoencoder deep learning CNN leukemia diagnosis computeraided diagnosis
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A New Method for Diagnosis of Leukemia Utilizing a Hybrid DL-ML Approach for Binary and Multi-Class Classification on a Limited-Sized Database
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作者 Nilkanth Mukund Deshpande Shilpa Gite +2 位作者 Biswajeet Pradhan Abdullah Alamri Chang-Wook Lee 《Computer Modeling in Engineering & Sciences》 SCIE EI 2024年第4期593-631,共39页
Infection of leukemia in humans causes many complications in its later stages.It impairs bone marrow’s ability to produce blood.Morphological diagnosis of human blood cells is a well-known and well-proven technique f... Infection of leukemia in humans causes many complications in its later stages.It impairs bone marrow’s ability to produce blood.Morphological diagnosis of human blood cells is a well-known and well-proven technique for diagnosis in this case.The binary classification is employed to distinguish between normal and leukemiainfected cells.In addition,various subtypes of leukemia require different treatments.These sub-classes must also be detected to obtain an accurate diagnosis of the type of leukemia.This entails using multi-class classification to determine the leukemia subtype.This is usually done using a microscopic examination of these blood cells.Due to the requirement of a trained pathologist,the decision process is critical,which leads to the development of an automated software framework for diagnosis.Researchers utilized state-of-the-art machine learning approaches,such as Support Vector Machine(SVM),Random Forest(RF),Na飗e Bayes,K-Nearest Neighbor(KNN),and others,to provide limited accuracies of classification.More advanced deep-learning methods are also utilized.Due to constrained dataset sizes,these approaches result in over-fitting,reducing their outstanding performances.This study introduces a deep learning-machine learning combined approach for leukemia diagnosis.It uses deep transfer learning frameworks to extract and classify features using state-of-the-artmachine learning classifiers.The transfer learning frameworks such as VGGNet,Xception,InceptionResV2,Densenet,and ResNet are employed as feature extractors.The extracted features are given to RF and XGBoost classifiers for the binary and multi-class classification of leukemia cells.For the experimentation,a very popular ALL-IDB dataset is used,approaching a maximum accuracy of 100%.A private real images dataset with three subclasses of leukemia images,including Acute Myloid Leukemia(AML),Chronic Lymphocytic Leukemia(CLL),and Chronic Myloid Leukemia(CML),is also employed to generalize the system.This dataset achieves an impressive multi-class classification accuracy of 97.08%.The proposed approach is robust and generalized by a standardized dataset and the real image dataset with a limited sample size(520 images).Hence,this method can be explored further for leukemia diagnosis having a limited number of dataset samples. 展开更多
关键词 leukemia diagnosis deep learning machine learning random forest XGBoost
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Laboratory Diagnosis of Acute Leukemia in Kenya: The Gaps and Opportunities
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作者 Teresa Lotodo Kirtika Patel Isaac Ndede 《Journal of Biosciences and Medicines》 2023年第12期93-105,共13页
Acute leukemia (AL) is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage of development. The diagnosis of leukemia and lymphomas, beyond morphology, is limited in ... Acute leukemia (AL) is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage of development. The diagnosis of leukemia and lymphomas, beyond morphology, is limited in low-resource countries including Kenya. Morphological diagnosis includes Cytological and Histological assessment of blood, bone marrow aspirates and tissues on suspected Acute leukemia patients. The World Health Organization (WHO, 2016) international guidelines on Acute leukemia diagnosis recommend that cytogenetic analysis, appropriate molecular genetics, Fluorescent in situ Hybridization (FISH) testing, and flow cytometric immuno-phenotyping should be done in addition to a morphologic assessment of Acute Leukemia. In facilities where resources are relatively available, immunophenotypic and genetic features have resulted not only in providing a more accurate leukemia diagnosis but also in identifying antigens or genes that can then be targeted for therapy. This article will look at the gaps in the diagnosis of Acute leukemia in low-resource settings like Kenya and opportunities available to improve diagnosis. 展开更多
关键词 Acute leukemia Complete Blood Counts Peripheral Blood Film Bone Marrow Aspirates Flow Cytometry cytogenetics Molecular Tests
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CLASSIFICATION OF NINETY-EIGHT ADULT CASES OF ACUTE LEUKEMIAS ACCORDING TO MORPHOLOGY,IMMUNOLOGY AND CYTOGENETICS
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作者 李建勇 薛永权 +5 位作者 夏学鸣 郑列琳 陆定伟 刘征辉 张学光 阮长耿 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 1996年第3期56-60,共5页
In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: th... In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification. 展开更多
关键词 leukemia diagnosis cytogenetics.
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Comparison of Mitoxantrone in Combination with Intermediate-dose Cytarabine versus High-dose Cytarabine as Consolidation Therapies for Young Non-APL Acute Myeloid Leukemia Patients with Favorable and Intermediate Cytogenetics 被引量:2
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作者 Ji-hao ZHOU Hai-qing LIN +4 位作者 Qi SHEN Li-na HU Guo-qiang LI Xiong-fei SUN Xin-you ZHANG 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2018年第1期51-57,共7页
In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine(HAM) with that of high-dose cytarabine alone(Hi DAC) as consolidation regimens in non-acute promyelocytic leu... In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine(HAM) with that of high-dose cytarabine alone(Hi DAC) as consolidation regimens in non-acute promyelocytic leukemia(APL) acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People's Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission(CR1).In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival(RFS) and overall survival(OS) were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics. 展开更多
关键词 CYTARABINE MITOXANTRONE CONSOLIDATION acute myeloid leukemia cytogenetics
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Hematobiological Profile of Patients with Chronic Myeloid Leukemia at the Diagnosis in Yaoundé: A Cross-Sectional Study
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作者 Annie Prudence Bisso Ngono Prisca Angandji Tipane +5 位作者 Sylvain Raoul Simeni Njonnou Aimée Tiodoung Timnou Anne Juliette Flora Sango Paul Ndom Claude Tayou Tagny Dora Mbanya 《Open Journal of Blood Diseases》 2020年第4期110-123,共14页
<strong>Background</strong><strong>:</strong> Chronic Myeloid Leukemia (CML) is a myeloproliferative blood neoplasia, characterized by the presence of a translocation between chromosomes 9 and ... <strong>Background</strong><strong>:</strong> Chronic Myeloid Leukemia (CML) is a myeloproliferative blood neoplasia, characterized by the presence of a translocation between chromosomes 9 and 22 leading to the formation of the Philadelphia chromosome. Data on the biological profile of patients with CML at diagnosis are still lacking in sub-Saharan Africa, particularly in Cameroon. <strong>Methods</strong><strong>:</strong> A cross-sectional study was carried out from January 2001 to July 2016 among patients recently diagnosed with CML at the Yaounde University Teaching Hospital, the Yaoundé Central Hospital and the Yaoundé General Hospital. Analyzed variables included socio-demographic, clinical presentation, the diagnosis means, biological parameters (hematological and biochemical). Sampling was consecutive. <strong>Results</strong><strong>:</strong> We included 132 (76 males) patients with CML with a median age of 39.2 years at diagnosis. The 31 - 45 years age group was the most represented, with 40.9% of the study population. A risk factor was found in only 5 (3.8%) of patients. Clinical manifestations were recorded in only 27 (20.45%) patients, with fatigue being the commonest (10.6%). Almost all patients (128, 96.9%) have performed the karyotype while 22 (16.7%) have performed fluorescence in situ hybridization (FISH) and 4 (3.0%) the PCR. At diagnosis, 66% of the patients were in the chronic phase (CP), 11.3% in accelerated phase (AP), and 22.7% in blast crisis (BC). All patients presented hyperleukocytosis, with a white blood cell mean of 128,362/mm3. Anemia was common (77.3%), usually moderate (61.4%). Thrombocytopenia was rare (8.3%), as far as basophilia (1.2%). Among those patients, mean values of creatinine, Glutamic pyruvate transaminase (GPT) and glycemia were normal while activated partial thromboplastin time (APTT), prothrombin time (PT), plasma uric acid level, gamma glutamic transferase (GGT), lactate dehydrogenase (LDH), and inflammatory parameters (ESR and CRP) were increased. <strong>Conclusion</strong><strong>:</strong> Patients with CML presented at their diagnosis hyperleukocytosis and anemia as hematological clues. Other biological anomalies include increased signs of cellular destruction (plasma uric acid level, LDH), coagulation perturbation and inflammatory syndrome. The chronic phase of the disease was common. 展开更多
关键词 Chronic Myeloid leukemia Biological Clues at diagnosis Sub-Saharan Africa
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Integrated analysis of comorbidity, pregnant outcomes, and amniotic fluid cytogenetics of fetuses with persistent left superior vena cava
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作者 Xin Yang Xin-Hui Su +4 位作者 Zhen Zeng Yao Fan Yuan Wu Li-Li Guo Xiao-Yan Xu 《World Journal of Cardiology》 2023年第10期500-507,共8页
BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To deve... BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities. 展开更多
关键词 Persistent left superior vena cava Prenatal diagnosis Amniotic fluid cytogenetics Pregnancy outcome Integrated analysis COMORBIDITY
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骨髓增生异常相关急性髓系白血病的诊断及风险分层
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作者 杨慧 郭睿 +4 位作者 时雨 乔纯 王琰 吴雨洁 仇海荣 《中国实验血液学杂志》 CAS CSCD 北大核心 2024年第5期1372-1376,共5页
目的:分析急性髓系白血病伴骨髓增生异常相关(AML-MR)患者的临床和遗传学特征并进行预后风险分层评估,以指导临床治疗决策并提高对疾病发生发展及其生物学特征的认识。方法:对307例诊断为AML-MR患者的细胞和分子遗传信息进行分析,诊断... 目的:分析急性髓系白血病伴骨髓增生异常相关(AML-MR)患者的临床和遗传学特征并进行预后风险分层评估,以指导临床治疗决策并提高对疾病发生发展及其生物学特征的认识。方法:对307例诊断为AML-MR患者的细胞和分子遗传信息进行分析,诊断依据包括临床病史、骨髓形态学、细胞遗传学异常和分子遗传学异常。根据2022年ELN指南进行风险分层评估。结果:57例(18.6%)患者根据形态学和病史符合AML-MR诊断标准,110例(37.2%)患者根据细胞遗传学结果符合AML-MR诊断210例(74.5%)根据分子检测结果符合AML-MR诊断。各分子突变类型中以ASXL1突变最为常见,其次是SRSF2和BCOR突变。除2例资料不全不能分类者305例可分类患者中263例(86.2%)归为预后不良组;20例(6.6%)归为预后良好组;其它22例(7.2%)归为预后中等组。结论:分子遗传信息在AML-MR的诊断中起着至关重要的作用,凸显了遗传学在诊断和预后中的重要价值。大多数AML-MR患者属于预后不良类别,需要早期采用强化和靶向治疗以改善生存结果。 展开更多
关键词 骨髓增生异常相关急性髓系白血病 分子遗传 诊断 风险分层
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神经元特异性烯醇化酶在急性淋巴母细胞白血病中的表达及意义
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作者 侯松燕 陈凤娟 +1 位作者 赵国江 陈克琼 《中国急救复苏与灾害医学杂志》 2024年第6期769-772,840,共5页
目的分析神经元特异性烯醇化酶(NSE)在急性淋巴母细胞白血病(ALL)患者中的表达及意义。方法选2021年3月—2023年3月攀枝花市中心医院收入的86例ALL为观察组,另选同时段来院体检的健康者65例为对照组。所有受试者均测其血清NSE水平,比较... 目的分析神经元特异性烯醇化酶(NSE)在急性淋巴母细胞白血病(ALL)患者中的表达及意义。方法选2021年3月—2023年3月攀枝花市中心医院收入的86例ALL为观察组,另选同时段来院体检的健康者65例为对照组。所有受试者均测其血清NSE水平,比较两组受试者NSE水平差异。根据观察组病情将其分为中枢神经系统白血病(CNSL)组31例以及非CNSL组55例。比较两组患者相关实验室指标[白细胞计数(WBC)、血红蛋白(Hb)、白细胞介素-10(IL-10)、血小板(PLT)、红细胞计数(RBC)]以及NSE水平。建立受试者工作曲线,评估NSE诊断、鉴别ALL与CNSL的价值。结果CNSL组NSE水平高于非CNSL组、对照组,三组差异有统计学意(P<0.05)。与非CNSL组相比,CNSL组患者WBC、IL-10水平明显更高,差异有统计学意(P<0.05)。ALL患者NSE水平与WBC、IL-10水平呈正相关(P<0.05),与Hb、RBC、PLT无显著相关性(P>0.05)。NSE水平诊断ALL曲线下面积为0.799,敏感度、特异度分别为0.663、0.938,cut-off值为11.360μg/L,约登指数为0.601;NSE水平鉴别ALL类型曲线下面积为0.961,敏感度、特异度分别为0.903、0.964,cut-off值为13.320,约登指数为0.867。结论NSE在ALL患者中有异常表达,且CNSL型患者异常程度更为明显,NSE可为临床诊断及鉴别诊断ALL类型提供一定的参考价值。 展开更多
关键词 神经元特异性烯醇化酶 急性淋巴母细胞白血病 中枢神经系统白血病 诊断 鉴别
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核心结合因子相关急性髓系白血病的实验室诊断和预后影响因素分析
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作者 丁静 张春玲 +5 位作者 王小蕊 李会丹 王洪玲 刘伟玲 蔺丽慧 李莉 《检验医学》 CAS 2024年第7期673-681,共9页
目的分析核心结合因子(CBF)相关急性髓系白血病(AML)患者的年龄、性别等一般临床特征和相关实验室检测结果与疗效、复发和生存时间等预后因素的相关性,以期为临床优化治疗方案提供参考。方法选取2014年1月—2021年12月上海市第一人民医... 目的分析核心结合因子(CBF)相关急性髓系白血病(AML)患者的年龄、性别等一般临床特征和相关实验室检测结果与疗效、复发和生存时间等预后因素的相关性,以期为临床优化治疗方案提供参考。方法选取2014年1月—2021年12月上海市第一人民医院使用标准诱导和巩固化疗方案的CBF-AML患者116例,其中77例接受了异基因造血干细胞移植(allo-HSCT)。根据融合基因分为伴RUNX1::RUNX1T1(第1组)AML和伴CBFB::MYH11(第2组)AML,采用Kaplan-Meier生存曲线分析2个组预后的差异。采用Cox回归分析评价预后影响因素。结果第1组和第2组基线特征[发病年龄、外周血白细胞计数和血红蛋白含量、骨髓原始细胞比例、额外染色体异常发生率、性染色体丢失、KRAS突变、NRAS突变]差异有统计学意义(P<0.05)。复发患者总生存期(OS)低于未复发患者(P=0.008)。男性、TET2突变和del(9q)的患者OS较短(P<0.05)。血小板计数<20×10~9·L-1的患者OS和无复发生存时间(RFS)均较短(P<0.05)。移植后复发患者的OS显著短于移植后未复发患者(P=0.001)。多因素Cox回归分析结果显示,复发、TET2突变和染色体del(9q)是CBF-AML患者OS缩短的显著危险因素(P<0.05),达到缓解天数是AML伴RUNX1::RUNX1T1患者OS的独立影响因素(P=0.038),骨髓原始细胞比例是AML伴CBFB::MYH11患者OS的独立影响因素(P=0.044)。结论CBF-AML患者2种融合基因亚组间在基线特征方面具有明显的异质性,TET2突变和del(9q)可显著影响患者生存天数,建议复发患者及时进行挽救性移植。应关注AML伴RUNX1::RUNX1T1患者达到缓解的天数,关注CBFB::MYH11患者原始细胞比例。 展开更多
关键词 急性髓系白血病 核心结合因子 突变 复发 实验室诊断 预后
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CEBPA突变CN-AML伴不同功能基因突变患者的临床特征及预后分析
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作者 朱静 亢叶芳 +3 位作者 高媛 王宏炜 郝壮辉 王宏伟 《中国实验血液学杂志》 CAS CSCD 北大核心 2024年第2期335-341,共7页
目的:分析CEBPA突变正常核型急性髓系白血病(CN-AML)患者伴随基因突变发生的情况,及其对患者临床特征及预后的影响。方法:回顾性分析2013年6月至2020年6月就诊于山西医科大学第二医院的151例初诊CN-AML患者,通过第二代DNA测序技术检测3... 目的:分析CEBPA突变正常核型急性髓系白血病(CN-AML)患者伴随基因突变发生的情况,及其对患者临床特征及预后的影响。方法:回顾性分析2013年6月至2020年6月就诊于山西医科大学第二医院的151例初诊CN-AML患者,通过第二代DNA测序技术检测34种常见血液肿瘤基因突变情况;比较CEBPA^(+)与CEBPA^(-)患者的伴随基因突变发生情况,分析不同功能的基因突变与CEBPA^(+)CN-AML患者临床特征及预后的相关性。结果:在151例CN-AML患者中共检测到55例(36.42%)CEBPA^(+)突变(包括36例CEBPA双突变,19例CEBPA单突变),其中41例(74.55%)与其他基因存在共突变,主要突变基因为:GATA214例(25.45%)、TET212例(21.82%)、FLT311例(20.00%)、NRAS 7例(12.73%)和WT15例(9.09%),部分病例同时存在2种及2种以上伴随基因突变。将突变基因按照功能进行分组后发现,CEBPA^(+)组较CEBPA^(-)组具有更低的组蛋白甲基化及染色质修饰基因伴随突变率(P=0.002,P=0.033)、更高的转录因子基因伴随突变率(P=0.037)。55例CEBPA^(+)CN-AML患者中,伴信号通路基因突变阳性组患者初诊时血小板计数低于突变阴性组(P=0.005),伴转录因子基因突变阳性组的骨髓原始细胞比例高于突变阴性组(P=0.003),伴DNA甲基化基因和染色质修饰基因突变阳性组的发病年龄均明显大于相应突变阴性组(P=0.002,P=0.008)。伴随信号通路基因突变阳性组CEBPA^(+)CN-AML患者的DFS短于阴性组(12个月vs未达到)(P=0.034)。伴DNA甲基化基因突变阳性组较阴性组患者具有更低的CR率(P=0.025),且OS和DFS均显著短于阴性组(中位OS:20个月vs未达到,P=0.006;中位DFS:15个月vs未达到,P=0.049)。伴组蛋白甲基化基因突变阳性组患者的OS显著短于阴性组(中位OS:12个月vs 40个月)(P=0.008)。多因素分析显示,骨髓原始细胞比例(HR=4.306)、伴DNA甲基化基因突变(HR=9.917)及组蛋白甲基化基因突变(HR=5.764)是影响CN-AML患者预后的独立危险因素。结论:CEBPA^(+)CN-AML患者有其特定的伴随基因表达谱,且伴随不同功能基因突变对患者的临床特征及预后有一定影响。 展开更多
关键词 CEBPA 正常核型急性髓系白血病 伴随基因突变 二代测序
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急性白血病并发肺部感染诊疗的研究进展
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作者 季浩 凌小穗 +1 位作者 李增政 杨同华 《中国实验血液学杂志》 CAS CSCD 北大核心 2024年第4期1284-1289,共6页
急性白血病是一组具有高死亡率的侵袭性恶性肿瘤,由于疾病本身和放化疗等原因导致功能性免疫细胞减少,使患者容易并发感染,其中并发肺部感染是导致患者死亡的重要原因之一。急性白血病并发肺部感染患者的早期准确诊断和合理治疗能阻止... 急性白血病是一组具有高死亡率的侵袭性恶性肿瘤,由于疾病本身和放化疗等原因导致功能性免疫细胞减少,使患者容易并发感染,其中并发肺部感染是导致患者死亡的重要原因之一。急性白血病并发肺部感染患者的早期准确诊断和合理治疗能阻止肺部感染的扩散,从而减少脓毒症、呼吸衰竭、多器官功能衰竭等严重并发症。但临床上在急性白血病并发肺部感染的诊断和治疗方面仍然存在困难,因此,本文针对急性白血病患者肺部细菌、真菌及病毒感染诊断和治疗方面的最新研究进展进行综述。 展开更多
关键词 急性白血病 肺部感染 诊断 治疗
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人工智能辅助诊断系统对急性白血病诊断价值Meta分析
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作者 张达谦 张晓欣 +3 位作者 叶子晨 谢芷兰 杨继春 江宇 《首都医科大学学报》 CAS 北大核心 2024年第4期693-700,共8页
目的应用Meta分析综合评价的人工智能(artificial intelligence,AI)技术辅助诊断急性白血病的潜在价值。方法研究人员对Ovid-Medline、Embase、IEEE Xplore和Cochrane Library等四个数据库进行系统检索,截至2023年6月1日,以“人工智能... 目的应用Meta分析综合评价的人工智能(artificial intelligence,AI)技术辅助诊断急性白血病的潜在价值。方法研究人员对Ovid-Medline、Embase、IEEE Xplore和Cochrane Library等四个数据库进行系统检索,截至2023年6月1日,以“人工智能、急性白血病、骨髓穿刺、血涂片、辅助诊断分析”为主题词进行检索,对纳入的文献采用Stata 17.0,RevMan 5.4和Meta-Disc 1.4软件进行了Meta分析。结果共纳入了15项研究涵盖了20214张图像,合并灵敏度、特异度、阳性似然比(positive likelihood ratio,PLR)、阴性似然比(negative likelihood ratio,NLR)、诊断比值比(diagnostic odds ratio,DOR)分别为0.96(95%CI:0.92~0.97),0.97(95%CI:0.94~0.98),29.9(95%CI:17.2~51.9),0.05(95%CI:0.03~0.08),652(95%CI:290~1464),绘制综合受试者工作特征曲线(summary receiver operating characteristic,SROC),计算曲线下面积(area under the curve,AUC)为0.99。Deeks漏斗图表明不存在发表偏倚,P=0.083。结论AI技术在急性白血病筛查及早期诊断时的灵敏度、特异度及AUC值均较高,具有临床推广应用的潜在价值,由于本文纳入研究的数量和质量的局限性,使得研究间存在显著的异质性,未来需要对这种异质性的潜在来源进行进一步的分析,为急性白血病AI辅助诊断规范化提供更加准确依据。本研究已在PROSPERO注册(编号:CRD42023480455)。 展开更多
关键词 人工智能 急性白血病 诊断 筛查
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数据挖掘在中医名家辨治血液病中的研究应用
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作者 司天宇 马小淋 +2 位作者 李晓靖 朱文伟 周永明 《世界中医药》 CAS 北大核心 2024年第6期899-903,共5页
血液病因其高危险性和低治愈率严重地威胁着患者的身心健康。中医治疗血液病有着明显的优势,名中医在辨治血液病方面具有丰富的经验,且临床疗效显著。但是由于中医的辨证依据大多是个人主观思考,无法广泛地指导临床,所以通过数据挖掘技... 血液病因其高危险性和低治愈率严重地威胁着患者的身心健康。中医治疗血液病有着明显的优势,名中医在辨治血液病方面具有丰富的经验,且临床疗效显著。但是由于中医的辨证依据大多是个人主观思考,无法广泛地指导临床,所以通过数据挖掘技术全面客观地总结临床医家的经验、辨证、方药,将更有利于挖掘出规范化的理法方药及应用规律,以科学、高效的方法实现中医药的继承和创新。 展开更多
关键词 数据挖掘 血液病 白血病 再生障碍性贫血 免疫性血小板减少性紫癜 淋巴瘤 中医诊疗 文献综述
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血清AIF-1、Bmi-1、MAP19联合诊断宫颈癌的价值分析
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作者 王汇博 陈慧君 朱敏 《疑难病杂志》 CAS 2024年第8期971-975,共5页
目的探究宫颈癌患者血清中同种异体移植物炎性因子1(AIF-1)、B细胞特异性莫洛尼白血病毒插入位点1(Bmi-1)、甘露聚糖结合凝集素相关蛋白19(MAP19)水平变化及对宫颈癌患者的诊断价值。方法选取2023年1—12月武汉大学中南医院妇产科收治... 目的探究宫颈癌患者血清中同种异体移植物炎性因子1(AIF-1)、B细胞特异性莫洛尼白血病毒插入位点1(Bmi-1)、甘露聚糖结合凝集素相关蛋白19(MAP19)水平变化及对宫颈癌患者的诊断价值。方法选取2023年1—12月武汉大学中南医院妇产科收治宫颈癌患者180例为观察组,另选取同期健康体检者180例为健康对照组。采用酶联免疫吸附法(ELISA)检测2组研究对象血清AIF-1、Bmi-1、MAP19水平;比较宫颈癌不同分期患者血清中AIF-1、Bmi-1、MAP19水平;绘制受试者工作特征(ROC)曲线分析血清AIF-1、Bmi-1、MAP19水平对宫颈癌的诊断价值。结果与健康对照组比较,观察组患者血清AIF-1、Bmi-1、MAP19水平上升(t=13.054、13.598、10.601,P均<0.001);不同分期宫颈癌患者血清中AIF-1、Bmi-1、MAP19水平随分期升高而升高(F=32.001、8.232、10.602,P均<0.001);宫颈癌患者血清AIF-1、Bmi-1、MAP19高水平在病理低分化、HPV阳性、FIGOⅢ~Ⅳ期和淋巴结转移中比例升高(AIF-1:χ^(2)=41.162、27.607、13.718、23.824,P均<0.001;Bmi-1:χ^(2)=33.563、22.060、22.599、18.451,P均<0.001;MAP19:χ^(2)=49.585、14.913、25.545、13.605,P均<0.001);血清AIF-1、Bmi-1、MAP19水平及三者联合预测宫颈癌病变的AUC分别为0.759、0.726、0.751、0.839,三者联合优于各自单独预测价值(Z=2.499、3.363、2.749,P=0.012、<0.001、0.016)。结论宫颈癌患者血清AIF-1、Bmi-1、MAP19水平显著上升,且随宫颈癌分期升高而升高,三者联合对宫颈癌具有较高的诊断效能。 展开更多
关键词 宫颈癌 同种异体移植物炎性因子1 B细胞特异性莫洛尼白血病毒插入位点1 甘露聚糖结合凝集素相关蛋白19 诊断
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淋巴样增强结合因子1在B细胞慢性淋巴增殖性疾病中的表达
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作者 赵敏 倪平 +2 位作者 翟惠莹 靳小可 杨玉琼 《实用医学杂志》 CAS 北大核心 2024年第7期984-988,共5页
目的研究淋巴样增强结合因子1(lymphoid enhancer-binding factor 1,LEF1)在B细胞慢性淋巴增殖性疾病(B cell chronic lymphoproliferative disorders,B-CLPD)中的表达情况,探讨在B-CLPD亚型诊断中的价值。方法回顾性分析58例B-CLPD患... 目的研究淋巴样增强结合因子1(lymphoid enhancer-binding factor 1,LEF1)在B细胞慢性淋巴增殖性疾病(B cell chronic lymphoproliferative disorders,B-CLPD)中的表达情况,探讨在B-CLPD亚型诊断中的价值。方法回顾性分析58例B-CLPD患者骨髓或淋巴结标本和20例对照组标本,采用免疫组化的方法,检测LEF1的表达情况。结果慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)20例,LEF1阳性16例,阳性率为80%;套细胞淋巴瘤阳性为1/12;滤泡性淋巴瘤为1/5;边缘区淋巴瘤为0/11;淋巴浆细胞淋巴瘤为0/8;毛细胞白血病0/2;20例非恶性血液病患者未见LEF1表达;LEF1表达在CLL组差异有统计学意义(P=0.000);LEF1的表达和CD200、CLL积分等CLL的相关指标具有相关性(P<0.05)。4例LEF1阴性的CLL患者中,2例+12染色体异常,检出率高于LEF1阳性组(P>0.05)。结论LEF1在慢性淋巴细胞白血病患者的诊断和鉴别诊断中,有较好的灵敏性和特异性,是B-CLPD鉴别诊断的良好指标。 展开更多
关键词 B细胞慢性淋巴增殖性疾病 淋巴样增强结合因子1 慢性淋巴细胞白血病 鉴别诊断
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血清DKK1、sRAGE、hCAP-18对急性淋巴细胞白血病患儿的诊断和预后不良的预测价值
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作者 朱雅文 刘东声 孙正豹 《检验医学与临床》 CAS 2024年第16期2431-2435,共5页
目的 探讨血清Dickkopf相关蛋白1(DKK1)、可溶性晚期糖基化终末产物受体(sRAGE)、人类阳离子抗菌蛋白-18(hCAP-18)对急性淋巴细胞白血病患儿的诊断和预后不良的预测价值。方法 选取2020年4月至2022年4月南京鼓楼医院集团宿迁医院收治的8... 目的 探讨血清Dickkopf相关蛋白1(DKK1)、可溶性晚期糖基化终末产物受体(sRAGE)、人类阳离子抗菌蛋白-18(hCAP-18)对急性淋巴细胞白血病患儿的诊断和预后不良的预测价值。方法 选取2020年4月至2022年4月南京鼓楼医院集团宿迁医院收治的84例急性淋巴细胞白血病患儿作为研究组,包括标危28例、中危36例、高危20例。另选取同期在南京鼓楼医院集团宿迁医院体检的84例健康儿童作为对照组。收集所有研究对象的临床资料。采用酶联免疫吸附试验检测所有研究对象血清DKK1、sRAGE、hCAP-18水平。对研究组患儿进行为期1年的随访,并按随访结果分为预后不良组和预后良好组。绘制受试者工作特征(ROC)曲线分析血清DKK1、sRAGE、hCAP-18在急性淋巴细胞白血病患儿诊断和预后不良的预测价值。采用多因素Logistic回归分析影响急性淋巴细胞白血病发生的因素。结果 与对照组相比,研究组患儿白细胞计数(WBC)、DKK1水平显著升高,sRAGE、hCAP-18水平显著降低,差异均有统计学意义(P<0.05)。与研究组标危患儿相比,中危和高危患儿血清DKK1水平显著升高,sRAGE、hCAP-18水平显著降低,差异均有统计学意义(P<0.05);与中危患儿相比,高危患儿血清DKK1水平显著升高,sRAGE、hCAP-18水平显著降低,差异均有统计学意义(P<0.05)。血清DKK1、sRAGE、hCAP-18联合诊断急性淋巴细胞白血病的曲线下面积(AUC)显著高于血清DKK1、sRAGE、hCAP-18单独诊断的AUC(Z=2.820,P=0.005;Z=5.170,P<0.001;Z=5.272,P<0.001)。多因素Logistic回归分析结果显示,血清WBC、DKK1、sRAGE、hCAP-18是急性淋巴细胞白血病发生的影响因素(P<0.05)。随访1年后,26例患儿纳入预后不良组,58例患儿纳入预后良好组。与预后良好组相比,预后不良组患儿血清DKK1水平显著升高,sRAGE、hCAP-18水平显著降低,差异均有统计学意义(P<0.05)。与预后不良组中危患儿相比,高危患儿DKK1水平显著升高,sRAGE、hCAP-18水平显著降低,差异均有统计学意义(P<0.05)。血清DKK1、sRAGE、hCAP-18联合预测急性淋巴细胞白血病患儿预后不良的AUC明显高于血清DKK1、sRAGE、hCAP-18单独预测的AUC(Z=2.312,P=0.021;Z=3.160,P=0.002;Z=2.926,P=0.003)。结论 急性淋巴细胞白血病患儿血清DKK1高表达,sRAGE、hCAP-18低表达,且三者联合检测对急性淋巴细胞白血病具有一定的诊断和预后预测价值。 展开更多
关键词 急性淋巴细胞白血病 Dickkopf相关蛋白1 可溶性晚期糖基化终末产物受体 人类阳离子抗菌蛋白-18 诊断 预后
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弥漫大B细胞型Richter综合征2例并文献复习
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作者 申继福 周晴 +1 位作者 陈小芸 严志民 《数理医药学杂志》 CAS 2024年第9期701-708,共8页
Richter综合征(Richter syndrome,RS)指在慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)或小淋巴细胞淋巴瘤(small lymphocytic lymphoma,SLL)的背景下,疾病向侵袭性淋巴瘤进展转化的临床过程。RS转化是恶性血液病进展的一种... Richter综合征(Richter syndrome,RS)指在慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)或小淋巴细胞淋巴瘤(small lymphocytic lymphoma,SLL)的背景下,疾病向侵袭性淋巴瘤进展转化的临床过程。RS转化是恶性血液病进展的一种临床表现,患者在出现RS转变时提示预后差。目前,全球范围内还未形成统一的RS治疗标准。本文回顾性分析2例从CLL向弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)转化的RS患者的治疗方案及预后,探讨化疗后采用造血干细胞移植或嵌合抗原受体T细胞(chimeric antigen receptor T cell,CAR-T)免疫治疗等策略治疗RS的可能性,以为临床实践提供参考与借鉴。 展开更多
关键词 慢性淋巴细胞白血病 弥漫大B细胞淋巴瘤 RICHTER综合征 干细胞移植 嵌合抗原受体T细胞 免疫治疗 临床诊断
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Individualized leukemia cell-population profiles in common B-cell acute lymphoblastic leukemia patients 被引量:3
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作者 Jian-Hua Yu Jing-Tao Dong +5 位作者 Yong-Qian Jia Neng-Gang Jiang Ting-Ting Zeng Hong Xu Xian-Ming Mo Wen-Tong Meng 《Chinese Journal of Cancer》 SCIE CAS CSCD 2013年第4期213-223,共11页
Immunophenotype is critical for diagnosing common B-cell acute lymphoblastic leukemia (common ALL) and detecting minimal residual disease. We developed a protocol to explore the immunophenotypic profiles of common ALL... Immunophenotype is critical for diagnosing common B-cell acute lymphoblastic leukemia (common ALL) and detecting minimal residual disease. We developed a protocol to explore the immunophenotypic profiles of common ALL based on the expression levels of the antigens associated with B lymphoid development, including IL-7Rα (CD127), cytoplasmic CD79a (cCD79a), CD19, VpreB (CD179a), and sIgM, which are successive and essential for progression of B cells along their developmental pathway. Analysis of the immunophenotypes of 48 common ALL cases showed that the immunophenotypic patterns were highly heterogeneous, with the leukemic cell population differing from case to case. Through the comprehensive analysis of immunophenotypic patterns, the profiles of patient-specific composite leukemia cell populations could provide detailed information helpful for the diagnosis, therapeutic monitoring, and individualized therapies for common ALL. 展开更多
关键词 COMMON B-CELL acute LYMPHOBLASTIC leukemia immunophenotype diagnosis heterogeneity flow CYTOMETRY
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Mosaic Trisomy 21 and Trisomy 14 as Acquired Cytogenetic Abnormalities without GATA1 Mutation in A Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia 被引量:1
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作者 Yi Xiao Jia Wei Jin-huan Xu Jian-feng Zhou Yi-cheng Zhang 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2011年第3期239-241,共3页
One case of acute megakaryoblastic leukemia (AMKL) with trisomy 21,trisomy 14 and unmutated GATA1 gene in a phenotypically normal girl was reported.The patient experienced transient myelodysplasia before the onset o... One case of acute megakaryoblastic leukemia (AMKL) with trisomy 21,trisomy 14 and unmutated GATA1 gene in a phenotypically normal girl was reported.The patient experienced transient myelodysplasia before the onset of AMKL.The bone marrow blasts manifested typical morphology of megakaryoblast both by the May-Giemsa staining and under the electronic microscopy.Leukemic cells were positive for CD13,CD33,CD117,CD56,CD38,CD41 and CD61 in flow cytometry analysis.Cytogenetic study showed karyotype of 48,XX,+14,+21 in 40% metaphases.Known mutations of GATA1 gene in Down syndrome or acquired trisomy 21 were not detected in this case. 展开更多
关键词 Acute megakaryoblastic leukemia MYELODYSPLASIA cytogenetics GATA1
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