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Machine Learning and Artificial Intelligence in Cancer Diagnostic and Monitoring

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Methods and Technologies Development".

Deadline for manuscript submissions: 30 July 2026 | Viewed by 5928

Special Issue Editor


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Guest Editor
Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands
Interests: prediction models; diagnostic tests; survival analysis; network and IPD meta-analyses; health technology assessment; health insurance

Special Issue Information

Dear Colleagues,

Cancer remains one of the leading causes of morbidity and mortality worldwide. The need for early detection, accurate diagnosis, and effective monitoring has led to a rapid increase in the application of Artificial Intelligence (AI) and Machine Learning (ML) in oncology.

This Special Issue will showcase innovative, interdisciplinary research on the application of AI/ML techniques in cancer diagnosis and monitoring. We particularly encourage submissions that address model interpretability, model implementation, fairness across diverse populations, and uncertainty estimation to improve clinical trust and the adoption of AI tools.

By bringing together contributions from medical imaging, bioinformatics, clinical data analysis, and AI ethics, this Special Issue will highlight not only technical advances but also translational challenges and solutions.

Dr. Junfeng Wang
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • machine learning
  • artificial intelligence
  • implementation
  • fairness
  • uncertainty

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Published Papers (4 papers)

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Research

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15 pages, 2091 KB  
Article
Using Machine Learning to Revise the AJCC Staging System for Neuroendocrine Tumors of the Pancreas
by Jacob Hillman, Quinn Clark, Liam Rehm, Anwar E. Ahmed and Dechang Chen
Cancers 2025, 17(22), 3658; https://doi.org/10.3390/cancers17223658 - 14 Nov 2025
Cited by 1 | Viewed by 971
Abstract
Background: Staging systems are essential for guiding treatment and predicting outcomes in cancer patients. For pancreatic neuroendocrine tumors, the American Joint Committee on Cancer (AJCC) Tumor, Lymph Node, and Metastasis (TNM) system is the current standard. However, its predictive accuracy is limited, [...] Read more.
Background: Staging systems are essential for guiding treatment and predicting outcomes in cancer patients. For pancreatic neuroendocrine tumors, the American Joint Committee on Cancer (AJCC) Tumor, Lymph Node, and Metastasis (TNM) system is the current standard. However, its predictive accuracy is limited, as survival curves often overlap, particularly between Stage I and Stage II. Improved methods of patient stratification are therefore needed. Methods: We applied the Ensemble Algorithm for Clustering Cancer Data (EACCD) that involves calculating dissimilarities, ensemble learning, and hierarchical clustering. Data were obtained from the Surveillance, Epidemiology, and End Results (SEER) program of the National Cancer Institute. Models were developed with AJCC TNM variables (T, N, M) and expanded by including patient age. Results: The AJCC TNM system achieved a C-index of 0.6656 (95% CI: 0.6473–0.6839), with survival curves showing poor separation. In contrast, the EACCD model using TNM variables produced four prognostic groups with refined and clear separation, yielding a comparable C-index of 0.6685 (95% CI: 0.6518–0.6852). When age was added, EACCD identified five groups with even stronger stratification and a higher C-index of 0.7015 (95% CI: 0.6852–0.7178). Conclusions: EACCD provides a refined prognostic framework for pancreatic neuroendocrine tumors, outperforming the AJCC TNM system by offering clearer survival stratification, comparable or higher C-index values, and integration of additional clinical factors. Full article
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16 pages, 1882 KB  
Article
Evaluation of the Ability to Predict Subsequent Metastasis of Early Oral Squamous Cell Carcinoma Using PET Radiomics Machine Learning Models
by Yutaka Nikkuni, Hideyoshi Nishiyama, Masaki Takamura, Taichi Kobayashi, Marie Soga, Makiko Ike, Kouji Katsura and Takafumi Hayashi
Cancers 2025, 17(21), 3573; https://doi.org/10.3390/cancers17213573 - 5 Nov 2025
Cited by 1 | Viewed by 1113
Abstract
Background/Objectives: Oral squamous cell carcinoma (OSCC) carries a risk of late metastasis not only in advanced stages but also in early stages. In this study, we built and tested radiomics-based machine learning (ML) models for predicting the risk of metastasis from early [...] Read more.
Background/Objectives: Oral squamous cell carcinoma (OSCC) carries a risk of late metastasis not only in advanced stages but also in early stages. In this study, we built and tested radiomics-based machine learning (ML) models for predicting the risk of metastasis from early OSCC on 18F-FDG positron emission tomography (PET). Methods: Patients diagnosed with T1 or T2 squamous cell carcinoma who underwent a preoperative 18F-FDG PET-CT examination at a single institution between 2016 and December 2022 were included in this retrospective study. The presence or absence of late cervical lymph node metastasis was confirmed for all patients. Among the radiomics features extracted from the images, we selected those that were useful for predicting late metastasis and used them to create ML models. We then verified the prediction accuracy of the models. Results: A total of 109 subjects were included, of which 31 had late lymph node metastasis and 78 were without metastasis. The most accurate ML model created using radiomics features selected from the subject cases had an area under the curve of 0.977 and accuracy of 87.5%. Conclusions: We confirmed that ML models using radiomics features extracted from PET images can be useful for predicting late metastasis in patients with early-stage OSCC. Full article
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Review

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51 pages, 4517 KB  
Review
Artificial Intelligence in Oncology: A Comprehensive Cross-Cancer Translational Readiness Analysis Across 18 Malignancies
by Sai Kiran Kuchana, Uday Kumar Repalle, Nikhilesh V. Alahari, Manpreet Kondamuri, Sai Kiran Manduva, Raghu Vamsi Vanguru, Sri Anjali Gorle and Suresh K. Alahari
Cancers 2026, 18(10), 1543; https://doi.org/10.3390/cancers18101543 - 10 May 2026
Viewed by 543
Abstract
Background: Artificial intelligence (AI) is reshaping oncology at every stage of the cancer care pathway, from population-level screening through molecular diagnosis, treatment planning, and post-treatment surveillance. Despite an exponential growth in AI oncology publications exceeding 5000 peer-reviewed studies annually, a critical and persistent [...] Read more.
Background: Artificial intelligence (AI) is reshaping oncology at every stage of the cancer care pathway, from population-level screening through molecular diagnosis, treatment planning, and post-treatment surveillance. Despite an exponential growth in AI oncology publications exceeding 5000 peer-reviewed studies annually, a critical and persistent gap separates demonstrated algorithmic performance from genuine patient benefit. Most published evidence derives from retrospective, single-institution studies conducted in curated dataset environments that systematically differ from real-world clinical deployment conditions. This comprehensive review examines the translational maturity of AI applications across 18 major malignancies, providing an evidence-stratified, cross-cancer assessment of where AI has fulfilled, approaches, or remains far from fulfilling its transformative potential in oncological care. Methods: A structured narrative review was conducted across PubMed/MEDLINE, Embase, IEEE Xplore, and the Cochrane Library, supplemented by regulatory grey literature including FDA 510(k) decision summaries, CE Technical Files, and ClinicalTrials.gov. Search terms combined cancer site-specific terminology with AI methodology terms and translational outcome descriptors. Studies were only included if they applied an AI or machine learning methodology to a defined clinical oncological task, reported a clearly specified performance evaluation, and involved human subjects or human-derived clinical data. Evidence quality was assessed using QUADAS-2, PROBAST, and Cochrane RoB 2. A five-tier translational readiness framework, grounded in the NIH T0–T4 translational spectrum and CONSORT-AI/SPIRIT-AI guidelines, was applied a priori to enable cross-cancer comparison. A rigorous distinction was maintained between diagnostic accuracy and clinical utility, defined as demonstrated impact on clinical decision-making or patient-centered outcomes. Results: Across all 18 malignancies, AI development varied profoundly by cancer type. Breast cancer and prostate cancer (Tier 1) represent the most mature AI ecosystems, with multiple FDA-cleared tools for mammographic screening and digital pathology achieving prospective multi-institutional validation; however, randomized evidence demonstrating reduced cancer-specific mortality remains absent. Lung, hepatocellular, and melanoma AI (Tier 2) have achieved regulatory milestones but face documented performance disparities across demographic subgroups, including DermaSensor’s 20.7% specificity in primary care settings and HCC model failures in non-viral disease etiologies. Colorectal, glioma, pancreatic, and ovarian cancers (Tier 3) exhibit technical maturity without clinical clarity: colorectal CADe systems increase adenoma detection but meta-analyses of 18,232 patients across 21 RCTs fail to demonstrate improvement in advanced neoplasia detection or cancer incidence reduction. A full study-level presentation of pooled estimates, confidence intervals, and heterogeneity statistics for each cited randomized evidence base across all cancer types would extend beyond the intended scope and format of this cross-cancer narrative review. Gastric, esophageal, cervical, bladder, head and neck, and endometrial cancers (Tier 4) demonstrate promising single-institutional or geographically restricted results without multi-institutional external validation, particularly notable for cervical cancer AI’s transformative potential in low- and middle-income countries constrained by absent regulatory frameworks. Hematologic malignancies, sarcoma, and pediatric solid tumors (Tier 5) face structural barriers, workflow incompatibility in hematopathology, extreme rarity in sarcoma (>70 subtypes, <15,000 US cases annually), and irreducible ethical constraints in pediatric data governance, that cannot be resolved through algorithmic refinement alone. Conclusions: Oncological AI has not yet fulfilled its clinical promise. Across all five translational tiers, a single finding is consistent: diagnostic accuracy is not a surrogate for patient benefit. AI tools with high sensitivity and specificity have repeatedly failed to demonstrate equivalent reductions in cancer-specific mortality, overdiagnosis, or procedural harm under real-world outcome scrutiny. Simultaneously, documented performance disparities across races, ethnicity, disease etiology, and geographic setting reveal that current AI systems risk amplifying the very health inequities they are positioned to resolve. Bridging this translational gap requires three coordinated systemic shifts: regulatory frameworks mandating post-market outcome surveillance as a condition of clinical clearance; prospective trial designs measuring patient-centered endpoints rather than diagnostic concordance alone; and sustained infrastructure investment in federated data governance, demographically inclusive training datasets, and LMIC-accessible regulatory pathways. AI holds genuine potential to reduce cancer mortality on a global scale—but only if held to the evidentiary and equity standards that the stakes of oncological care demand. Full article
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22 pages, 4830 KB  
Review
Artificial Intelligence and New Technologies in Melanoma Diagnosis: A Narrative Review
by Sebastian Górecki, Aleksandra Tatka and James Brusey
Cancers 2025, 17(24), 3896; https://doi.org/10.3390/cancers17243896 - 5 Dec 2025
Cited by 2 | Viewed by 2762
Abstract
Melanoma is among the most lethal forms of skin cancer, where early and accurate diagnosis significantly improves patient survival. Traditional diagnostic pathways, including clinical inspection and dermoscopy, are constrained by interobserver variability and limited access to expertise. Between 2020 and 2025, advances in [...] Read more.
Melanoma is among the most lethal forms of skin cancer, where early and accurate diagnosis significantly improves patient survival. Traditional diagnostic pathways, including clinical inspection and dermoscopy, are constrained by interobserver variability and limited access to expertise. Between 2020 and 2025, advances in artificial intelligence (AI) and medical imaging technologies have substantially redefined melanoma diagnostics. This narrative review synthesizes key developments in AI-based approaches, emphasizing the progression from convolutional neural networks to vision transformers and multimodal architectures that incorporate both clinical and imaging data. We examine the integration of AI with non-invasive imaging techniques such as reflectance confocal microscopy, high-frequency ultrasound, optical coherence tomography, and three-dimensional total body photography. The role of AI in teledermatology and mobile applications is also addressed, with a focus on expanding diagnostic accessibility. Persistent challenges include data bias, limited generalizability across diverse skin types, and a lack of prospective clinical validation. Recent regulatory frameworks, including the European Union Artificial Intelligence Act and the United States Food and Drug Administration’s guidance on adaptive systems, are discussed in the context of clinical deployment. The review concludes with perspectives on explainable AI, federated learning, and strategies for equitable implementation in dermatological oncology. Full article
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