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Gene Expression Profiling for Differential Diagnosis of Liver Metastases: A Multicenter, Retrospective Cohort Study

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机构: [1]Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China [2]Department of Oncology,Shanghai Medical College, Fudan University, Shanghai, China [3]Institute of Pathology, Fudan University, Shanghai, China [4]The Cancer of Unknown Primary Group of Pathology Committee, Chinese Research Hospital Association, Shanghai, China [5]Department of Pathology, Chengdu Second People’s Hospital, Chengdu, China [6]Department of Pathology, ChongqingUniversity Cancer Hospital, Chongqing, China [7]The Canhelp Genomics Research Center, Canhelp Genomics Co., Ltd.,Hangzhou, China [8]Department of Pathology, Sichuan Cancer Hospital, Chengdu, China [9]Department of Pathology, Sir RunRun Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, China [10]Department of Pathology, Hubei CancerHospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China [11]The Institute of MachineLearning and Systems Biology, College of Electronics and Information Engineering, Tongji University, Shanghai, China [12]Xuzhou Engineering Research Center of Medical Genetics and Transformation, Department of Genetics, Xuzhou MedicalUniversity, Xuzhou, China [13]Department of Pathology, National Clinical Research Center of Cancer, Key Laboratory ofCancer Prevention and Therapy, Tianjin’s Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute andHospital, Tianjin, China [14]Department of Pathology, West China Hospital, Sichuan University, Chengdu, China
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关键词: liver metastasis tissue of origin gene expression profiling real-time PCR tumor classification

摘要:
Background Liver metastases (LM) are the most common tumors encountered in the liver and continue to be a significant cause of morbidity and mortality. Identification of the primary tumor of any LM is crucial for the implementation of effective and tailored treatment approaches, which still represents a difficult problem in clinical practice.</p> Methods The resection or biopsy specimens and associated clinicopathologic data were archived from seven independent centers between January 2017 and December 2020. The primary tumor sites of liver tumors were verified through evaluation of available medical records, pathological and imaging information. The performance of a 90-gene expression assay for the determination of the site of tumor origin was assessed.</p> Result A total of 130 LM covering 15 tumor types and 16 primary liver tumor specimens that met all quality control criteria were analyzed by the 90-gene expression assay. Among 130 LM cases, tumors were most frequently located in the colorectum, ovary and breast. Overall, the analysis of the 90-gene signature showed 93.1% and 100% agreement rates with the reference diagnosis in LM and primary liver tumor, respectively. For the common primary tumor types, the concordance rate was 100%, 95.7%, 100%, 93.8%, 87.5% for classifying the LM from the ovary, colorectum, breast, neuroendocrine, and pancreas, respectively.</p> Conclusion The overall accuracy of 93.8% demonstrates encouraging performance of the 90-gene expression assay in identifying the primary sites of liver tumors. Future incorporation of the 90-gene expression assay in clinical diagnosis will aid oncologists in applying precise treatments, leading to improved care and outcomes for LM patients.</p>

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基金编号: 20Z11900300 2019CXJQ03 19MC1911000 shslczdzk01301 81 401 963 YJYQ201603 WJ2019H124 2020CFB869 20Z11900300 81 972 728

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出版当年[2021]版:
大类 | 3 区 医学
小类 | 3 区 肿瘤学
最新[2023]版:
大类 | 3 区 医学
小类 | 3 区 肿瘤学
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Q2 ONCOLOGY
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Q2 ONCOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

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第一作者机构: [1]Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China [2]Department of Oncology,Shanghai Medical College, Fudan University, Shanghai, China [3]Institute of Pathology, Fudan University, Shanghai, China [4]The Cancer of Unknown Primary Group of Pathology Committee, Chinese Research Hospital Association, Shanghai, China
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通讯机构: [1]Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China [2]Department of Oncology,Shanghai Medical College, Fudan University, Shanghai, China [3]Institute of Pathology, Fudan University, Shanghai, China [4]The Cancer of Unknown Primary Group of Pathology Committee, Chinese Research Hospital Association, Shanghai, China [10]Department of Pathology, Hubei CancerHospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China [13]Department of Pathology, National Clinical Research Center of Cancer, Key Laboratory ofCancer Prevention and Therapy, Tianjin’s Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute andHospital, Tianjin, China
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