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Huang X, Qin M, Fang M, Wang Z, Hu C, Zhao T, Qin Z, Zhu H, Wu L, Yu G, De Cobelli F, Xie X, Palumbo D, Tian J, Dong D. The application of artificial intelligence in upper gastrointestinal cancers. JOURNAL OF THE NATIONAL CANCER CENTER 2025; 5:113-131. [PMID: 40265096 PMCID: PMC12010392 DOI: 10.1016/j.jncc.2024.12.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2024] [Revised: 09/17/2024] [Accepted: 12/20/2024] [Indexed: 04/24/2025] Open
Abstract
Upper gastrointestinal cancers, mainly comprising esophageal and gastric cancers, are among the most prevalent cancers worldwide. There are many new cases of upper gastrointestinal cancers annually, and the survival rate tends to be low. Therefore, timely screening, precise diagnosis, appropriate treatment strategies, and effective prognosis are crucial for patients with upper gastrointestinal cancers. In recent years, an increasing number of studies suggest that artificial intelligence (AI) technology can effectively address clinical tasks related to upper gastrointestinal cancers. These studies mainly focus on four aspects: screening, diagnosis, treatment, and prognosis. In this review, we focus on the application of AI technology in clinical tasks related to upper gastrointestinal cancers. Firstly, the basic application pipelines of radiomics and deep learning in medical image analysis were introduced. Furthermore, we separately reviewed the application of AI technology in the aforementioned aspects for both esophageal and gastric cancers. Finally, the current limitations and challenges faced in the field of upper gastrointestinal cancers were summarized, and explorations were conducted on the selection of AI algorithms in various scenarios, the popularization of early screening, the clinical applications of AI, and large multimodal models.
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Affiliation(s)
- Xiaoying Huang
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, China
| | - Minghao Qin
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, China
- University of Science and Technology Beijing, Beijing, China
| | - Mengjie Fang
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
| | - Zipei Wang
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, China
| | - Chaoen Hu
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, China
| | - Tongyu Zhao
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, China
- University of Science and Technology of China, Hefei, China
| | - Zhuyuan Qin
- Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
- Beijing University of Chinese Medicine, Beijing, China
| | | | - Ling Wu
- KiangWu Hospital, Macau, China
| | | | | | | | - Diego Palumbo
- Department of Radiology, IRCCS San Raffaele Scientific Institute, Milan, Italy
| | - Jie Tian
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
| | - Di Dong
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
- School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, China
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Li H, Dong D, Fang M, He B, Liu S, Hu C, Liu Z, Wang H, Tang L, Tian J. ContraSurv: Enhancing Prognostic Assessment of Medical Images via Data-Efficient Weakly Supervised Contrastive Learning. IEEE J Biomed Health Inform 2025; 29:1232-1242. [PMID: 39437290 DOI: 10.1109/jbhi.2024.3484991] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2024]
Abstract
Prognostic assessment remains a critical challenge in medical research, often limited by the lack of well-labeled data. In this work, we introduce ContraSurv, a weakly-supervised learning framework based on contrastive learning, designed to enhance prognostic predictions in 3D medical images. ContraSurv utilizes both the self-supervised information inherent in unlabeled data and the weakly-supervised cues present in censored data, refining its capacity to extract prognostic representations. For this purpose, we establish a Vision Transformer architecture optimized for our medical image datasets and introduce novel methodologies for both self-supervised and supervised contrastive learning for prognostic assessment. Additionally, we propose a specialized supervised contrastive loss function and introduce SurvMix, a novel data augmentation technique for survival analysis. Evaluations were conducted across three cancer types and two imaging modalities on three real-world datasets. The results confirmed the enhanced performance of ContraSurv over competing methods, particularly in data with a high censoring rate.
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Ma L, Guo L, Zhu X, Yi X, Du W, Lan X, Wang P. Diffusion-weighted MRI of advanced gastric cancer: correlations of the apparent diffusion coefficient with Borrmann classification, proliferation and aggressiveness. Abdom Radiol (NY) 2025:10.1007/s00261-024-04718-6. [PMID: 39815027 DOI: 10.1007/s00261-024-04718-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/27/2024] [Revised: 11/19/2024] [Accepted: 11/20/2024] [Indexed: 01/18/2025]
Abstract
OBJECTIVES This study aimed to compare apparent diffusion coefficient (ADC) values derived from diffusion-weighted imaging (DWI) of different Borrmann types of advanced gastric cancer (AGC) and correlate these ADC values with Ki-67 expression and serum CEA levels in AGC. METHODS A total of 84 patients with AGC who underwent DWI of the upper abdomen before tumor resection in our hospital between June 2014 and July 2018 were included in the present study. DWI was obtained with a single-shot echo planar imaging sequence in the axial plane (b values: 0, 100, 700 and 1000 s/mm2). Mean ADC values were calculated from tumor regions. Postoperatively, specimens were used to determine Borrmann type (1-4). Then, ADC values for AGCs categorized by Borrmann type were compared by one-way analysis of variance with Bonferroni correction for multiple comparisons. Subsequently, associations between ADC values and Ki-67 expression and serum CEA levels were evaluated by Spearman's correlation analysis. RESULTS The mean ADC value for Borrmann type 3 AGC was significantly lower compared to the mean ADC value for Borrmann type 2 AGC (p < 0.01). There were significant negative correlations between ADC values and Ki-67 scores (r = -0.639, p < 0.001), and between ADC values and serum CEA levels (r = -0.575, p < 0.001). CONCLUSIONS DWI can help characterize Borrmann types of AGC. ADC values may reflect Ki-67 expression and serum CEA levels in patients with AGC, and have utility as a non-invasive indicator for evaluating the aggressiveness and prognosis of AGC.
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Affiliation(s)
- Liang Ma
- Department of Medical Imaging, Tongji Hospital, Tongji University, No. 389, Xincun Road, Putuo District, Shanghai, 200065, China.
- Department of Radiology, Children's Hospital of Fudan University, National Children's Medical Center, No. 399, Wanyuan Road, Minhang District, Shanghai, 201102, China.
| | - Liling Guo
- Department of Radiology, Shanghai Jiangong Hospital, No. 666, Zhongshan North No.1 Road, Hongkou District, Shanghai, 200083, China
| | - Xuyou Zhu
- Department of Pathology, Tongji Hospital, Tongji University, No. 389, Xincun Road, Putuo District, Shanghai, 200065, China
| | - Xianghua Yi
- Department of Pathology, Tongji Hospital, Tongji University, No. 389, Xincun Road, Putuo District, Shanghai, 200065, China
| | - Wenxian Du
- Department of Radiology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China
| | - Xiucai Lan
- Department of Geriatrics, Renji Hospital, School of Medicine, Shanghai Jiaotong University, No.160 Pujian Road, Shanghai, 200127, China
| | - Peijun Wang
- Department of Medical Imaging, Tongji Hospital, Tongji University, No. 389, Xincun Road, Putuo District, Shanghai, 200065, China
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Kim HJ, Gong EJ, Bang CS. Application of Machine Learning Based on Structured Medical Data in Gastroenterology. Biomimetics (Basel) 2023; 8:512. [PMID: 37999153 PMCID: PMC10669027 DOI: 10.3390/biomimetics8070512] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/09/2023] [Revised: 10/12/2023] [Accepted: 10/26/2023] [Indexed: 11/25/2023] Open
Abstract
The era of big data has led to the necessity of artificial intelligence models to effectively handle the vast amount of clinical data available. These data have become indispensable resources for machine learning. Among the artificial intelligence models, deep learning has gained prominence and is widely used for analyzing unstructured data. Despite the recent advancement in deep learning, traditional machine learning models still hold significant potential for enhancing healthcare efficiency, especially for structured data. In the field of medicine, machine learning models have been applied to predict diagnoses and prognoses for various diseases. However, the adoption of machine learning models in gastroenterology has been relatively limited compared to traditional statistical models or deep learning approaches. This narrative review provides an overview of the current status of machine learning adoption in gastroenterology and discusses future directions. Additionally, it briefly summarizes recent advances in large language models.
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Affiliation(s)
- Hye-Jin Kim
- Department of Internal Medicine, College of Medicine, Hallym University, Chuncheon 24253, Republic of Korea; (H.-J.K.); (E.-J.G.)
- Institute for Liver and Digestive Diseases, Hallym University, Chuncheon 24253, Republic of Korea
- Institute of New Frontier Research, College of Medicine, Hallym University, Chuncheon 24253, Republic of Korea
| | - Eun-Jeong Gong
- Department of Internal Medicine, College of Medicine, Hallym University, Chuncheon 24253, Republic of Korea; (H.-J.K.); (E.-J.G.)
- Institute for Liver and Digestive Diseases, Hallym University, Chuncheon 24253, Republic of Korea
- Institute of New Frontier Research, College of Medicine, Hallym University, Chuncheon 24253, Republic of Korea
| | - Chang-Seok Bang
- Department of Internal Medicine, College of Medicine, Hallym University, Chuncheon 24253, Republic of Korea; (H.-J.K.); (E.-J.G.)
- Institute for Liver and Digestive Diseases, Hallym University, Chuncheon 24253, Republic of Korea
- Institute of New Frontier Research, College of Medicine, Hallym University, Chuncheon 24253, Republic of Korea
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Zhang S, Mu W, Dong D, Wei J, Fang M, Shao L, Zhou Y, He B, Zhang S, Liu Z, Liu J, Tian J. The Applications of Artificial Intelligence in Digestive System Neoplasms: A Review. HEALTH DATA SCIENCE 2023; 3:0005. [PMID: 38487199 PMCID: PMC10877701 DOI: 10.34133/hds.0005] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 09/05/2022] [Accepted: 12/05/2022] [Indexed: 03/17/2024]
Abstract
Importance Digestive system neoplasms (DSNs) are the leading cause of cancer-related mortality with a 5-year survival rate of less than 20%. Subjective evaluation of medical images including endoscopic images, whole slide images, computed tomography images, and magnetic resonance images plays a vital role in the clinical practice of DSNs, but with limited performance and increased workload of radiologists or pathologists. The application of artificial intelligence (AI) in medical image analysis holds promise to augment the visual interpretation of medical images, which could not only automate the complicated evaluation process but also convert medical images into quantitative imaging features that associated with tumor heterogeneity. Highlights We briefly introduce the methodology of AI for medical image analysis and then review its clinical applications including clinical auxiliary diagnosis, assessment of treatment response, and prognosis prediction on 4 typical DSNs including esophageal cancer, gastric cancer, colorectal cancer, and hepatocellular carcinoma. Conclusion AI technology has great potential in supporting the clinical diagnosis and treatment decision-making of DSNs. Several technical issues should be overcome before its application into clinical practice of DSNs.
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Affiliation(s)
- Shuaitong Zhang
- School of Engineering Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
| | - Wei Mu
- School of Engineering Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
| | - Di Dong
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
| | - Jingwei Wei
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
| | - Mengjie Fang
- School of Engineering Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
| | - Lizhi Shao
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
| | - Yu Zhou
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
| | - Bingxi He
- School of Engineering Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
| | - Song Zhang
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
| | - Zhenyu Liu
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
| | - Jianhua Liu
- Department of Oncology, Guangdong Provincial People's Hospital/Second Clinical Medical College of Southern Medical University/Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Jie Tian
- School of Engineering Medicine, Beihang University, Beijing, China
- Key Laboratory of Big Data-Based Precision Medicine, Beihang University, Ministry of Industry and Information Technology, Beijing, China
- CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
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Pan LC, Wu XR, Lu Y, Zhang HQ, Zhou YL, Liu X, Liu SL, Yan QY. Artificial intelligence empowered digital health technologies in cancer survivorship care: A scoping review. Asia Pac J Oncol Nurs 2022; 9:100127. [PMID: 36176267 PMCID: PMC9513729 DOI: 10.1016/j.apjon.2022.100127] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/26/2022] [Accepted: 07/29/2022] [Indexed: 12/03/2022] Open
Abstract
Objective The objectives of this systematic review are to describe features and specific application scenarios for current cancer survivorship care services of Artificial intelligence (AI)-driven digital health technologies (DHTs) and to explore the acceptance and briefly evaluate its feasibility in the application process. Methods Search for literatures published from 2010 to 2022 on sites MEDLINE, IEEE-Xplor, PubMed, Embase, Cochrane Central Register of Controlled Trials and Scopus systematically. The types of literatures include original research, descriptive study, randomized controlled trial, pilot study, and feasible or acceptable study. The literatures above described current status and effectiveness of digital medical technologies based on AI and used in cancer survivorship care services. Additionally, we use QuADS quality assessment tool to evaluate the quality of literatures included in this review. Results 43 studies that met the inclusion criteria were analyzed and qualitatively synthesized. The current status and results related to the application of AI-driven DHTs in cancer survivorship care were reviewed. Most of these studies were designed specifically for breast cancer survivors' care and focused on the areas of recurrence or secondary cancer prediction, clinical decision support, cancer survivability prediction, population or treatment stratified, anti-cancer treatment-induced adverse reaction prediction, and so on. Applying AI-based DHTs to cancer survivors actually has shown some positive outcomes, including increased motivation of patient-reported outcomes (PROs), reduce fatigue and pain levels, improved quality of life, and physical function. However, current research mostly explored the technology development and formation (testing) phases, with limited-scale population, and single-center trial. Therefore, it is not suitable to draw conclusions that the effectiveness of AI-based DHTs in supportive cancer care, as most of applications are still in the early stage of development and feasibility testing. Conclusions While digital therapies are promising in the care of cancer patients, more high-quality studies are still needed in the future to demonstrate the effectiveness of digital therapies in cancer care. Studies should explore how to develop uniform standards for measuring patient-related outcomes, ensure the scientific validity of research methods, and emphasize patient and health practitioner involvement in the development and use of technology.
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Affiliation(s)
- Lu-Chen Pan
- Department of Nursing, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
| | - Xiao-Ru Wu
- School of Nursing, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
| | - Ying Lu
- Department of Nursing, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
- School of Nursing, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
| | - Han-Qing Zhang
- Health Science Center, Yangtze University, Jinzhou 434023, China
| | - Yao-Ling Zhou
- Department of Nursing, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
- School of Nursing, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
| | - Xue Liu
- School of Nursing, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
| | - Sheng-Lin Liu
- Department of Medical Engineering, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
| | - Qiao-Yuan Yan
- Department of Nursing, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
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Zhang AQ, Zhao HP, Li F, Liang P, Gao JB, Cheng M. Computed tomography-based deep-learning prediction of lymph node metastasis risk in locally advanced gastric cancer. Front Oncol 2022; 12:969707. [PMID: 36212443 PMCID: PMC9537615 DOI: 10.3389/fonc.2022.969707] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2022] [Accepted: 09/05/2022] [Indexed: 12/24/2022] Open
Abstract
Purpose Preoperative evaluation of lymph node metastasis (LNM) is the basis of personalized treatment of locally advanced gastric cancer (LAGC). We aim to develop and evaluate CT-based model using deep learning features to preoperatively predict LNM in LAGC. Methods A combined size of 523 patients who had pathologically confirmed LAGC were retrospectively collected between August 2012 and July 2019 from our hospital. Five pre-trained convolutional neural networks were exploited to extract deep learning features from pretreatment CT images. And the support vector machine (SVM) was employed as the classifier. We assessed the performance using the area under the receiver operating characteristics curve (AUC) and selected an optimal model, which was compared with a radiomics model developed from the training cohort. A clinical model was built with clinical factors only for baseline comparison. Results The optimal model with features extracted from ResNet yielded better performance with AUC of 0.796 [95% confidence interval (95% CI), 0.715-0.865] and accuracy of 75.2% (95% CI, 67.2%-81.5%) in the testing cohort, compared with 0.704 (0.625-0.783) and 61.8% (54.5%-69.9%) for the radiomics model. The predictive performance of all the radiological models were significantly better than the clinical model. Conclusion The novel and noninvasive deep learning approach could provide efficient and accurate prediction of lymph node metastasis in LAGC, and benefit clinical decision making of therapeutic strategy.
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Affiliation(s)
- An-qi Zhang
- Department of Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
| | - Hui-ping Zhao
- Department of Radiology, Shaanxi Provincial People’s Hospital, Xi’an, China
| | - Fei Li
- School of Cyber Science and Engineering, Wuhan University, Wuhan, China
| | - Pan Liang
- Department of Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
- Department of Medical Information, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
| | - Jian-bo Gao
- Department of Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
- Department of Medical Information, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
| | - Ming Cheng
- Department of Medical Information, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
- Henan Key Laboratory of Image Diagnosis and Treatment for Digestive System Tumor, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
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Tasci E, Zhuge Y, Camphausen K, Krauze AV. Bias and Class Imbalance in Oncologic Data-Towards Inclusive and Transferrable AI in Large Scale Oncology Data Sets. Cancers (Basel) 2022; 14:2897. [PMID: 35740563 PMCID: PMC9221277 DOI: 10.3390/cancers14122897] [Citation(s) in RCA: 39] [Impact Index Per Article: 13.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/27/2022] [Revised: 06/07/2022] [Accepted: 06/09/2022] [Indexed: 02/06/2023] Open
Abstract
Recent technological developments have led to an increase in the size and types of data in the medical field derived from multiple platforms such as proteomic, genomic, imaging, and clinical data. Many machine learning models have been developed to support precision/personalized medicine initiatives such as computer-aided detection, diagnosis, prognosis, and treatment planning by using large-scale medical data. Bias and class imbalance represent two of the most pressing challenges for machine learning-based problems, particularly in medical (e.g., oncologic) data sets, due to the limitations in patient numbers, cost, privacy, and security of data sharing, and the complexity of generated data. Depending on the data set and the research question, the methods applied to address class imbalance problems can provide more effective, successful, and meaningful results. This review discusses the essential strategies for addressing and mitigating the class imbalance problems for different medical data types in the oncologic domain.
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Affiliation(s)
- Erdal Tasci
- Center for Cancer Research, National Cancer Institute, NIH, Building 10, Bethesda, MD 20892, USA; (E.T.); (Y.Z.); (K.C.)
- Department of Computer Engineering, Ege University, Izmir 35100, Turkey
| | - Ying Zhuge
- Center for Cancer Research, National Cancer Institute, NIH, Building 10, Bethesda, MD 20892, USA; (E.T.); (Y.Z.); (K.C.)
| | - Kevin Camphausen
- Center for Cancer Research, National Cancer Institute, NIH, Building 10, Bethesda, MD 20892, USA; (E.T.); (Y.Z.); (K.C.)
| | - Andra V. Krauze
- Center for Cancer Research, National Cancer Institute, NIH, Building 10, Bethesda, MD 20892, USA; (E.T.); (Y.Z.); (K.C.)
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Targeted Therapy for Adrenocortical Carcinoma: A Genomic-Based Search for Available and Emerging Options. Cancers (Basel) 2022; 14:cancers14112721. [PMID: 35681700 PMCID: PMC9179357 DOI: 10.3390/cancers14112721] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2022] [Revised: 05/22/2022] [Accepted: 05/27/2022] [Indexed: 12/07/2022] Open
Abstract
In rare diseases such as adrenocortical carcinoma (ACC), in silico analysis can help select promising therapy options. We screened all drugs approved by the FDA and those in current clinical studies to identify drugs that target genomic alterations, also known to be present in patients with ACC. We identified FDA-approved drugs in the My Cancer Genome and National Cancer Institute databases and identified genetic alterations that could predict drug response. In total, 155 FDA-approved drugs and 905 drugs in clinical trials were identified and linked to 375 genes of 89 TCGA patients. The most frequent potentially targetable genetic alterations included TP53 (20%), BRD9 (13%), TERT (13%), CTNNB1 (13%), CDK4 (7%), FLT4 (7%), and MDM2 (7%). We identified TP53-modulating drugs to be possibly effective in 20-26% of patients, followed by the Wnt signaling pathway inhibitors (15%), Telomelysin and INO5401 (13%), FHD-609 (13%), etc. According to our data, 67% of ACC patients exhibited genomic alterations that might be targeted by FDA-approved drugs or drugs being tested in current clinical trials. Although there are not many current therapy options directly targeting reported ACC alterations, this study identifies emerging options that could be tested in clinical trials.
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