An Inclusive Foundation Model for Generalizable Cytogenetics in Precision Oncology

Chromosome analysis is vital for diagnosing genetic disorders and guiding cancer therapy decisions through the identification of somatic clonal aberrations. However, developing an AI model are hindered by the overwhelming complexity and diversity of chromosomal abnormalities, requiring extensive annotation efforts, while automated methods remain task-specific and lack generalizability due to the scarcity of comprehensive datasets spanning diverse resource conditions. Here, we introduce CHROMA, a foundation model for cytogenomics, designed to overcome these challenges by learning generalizable representations of chromosomal abnormalities. Pre-trained on over 84,000 specimens (~4 million chromosomal images) via self-supervised learning, CHROMA outperforms other methods across all types of abnormalities, even when trained on fewer labelled data and more imbalanced datasets. By facilitating comprehensive mapping of instability and clonal leisons across various aberration types, CHROMA offers a scalable and generalizable solution for reliable and automated clinical analysis, reducing the annotation workload for experts and advancing precision oncology through the early detection of rare genomic abnormalities, enabling broad clinical AI applications and making advanced genomic analysis more accessible.

Automated Quality Evaluation of Cervical Cytopathology Whole Slide Images Based on Content Analysis

The ThinPrep Cytologic Test (TCT) is the most widely used method for cervical cancer screening, and the sample quality directly impacts the accuracy of the diagnosis. Traditional manual evaluation methods rely on the observation of pathologist under microscopes. These methods exhibit high subjectivity, high cost, long duration, and low reliability. With the development of computer-aided diagnosis (CAD), an automated quality assessment system that performs at the level of a professional pathologist is necessary. To address this need, we propose a fully automated quality assessment method for Cervical Cytopathology Whole Slide Images (WSIs) based on The Bethesda System (TBS) diagnostic standards, artificial intelligence algorithms, and the characteristics of clinical data. The method analysis the context of WSIs to quantify quality evaluation metrics which are focused by TBS such as staining quality, cell counts and cell mass proportion through multiple models including object detection, classification and segmentation. Subsequently, the XGBoost model is used to mine the attention paid by pathologists to different quality evaluation metrics when evaluating samples, thereby obtaining a comprehensive WSI sample score calculation model. Experimental results on 100 WSIs demonstrate that the proposed evaluation method has significant advantages in terms of speed and consistency.

The impact of tissue detection on diagnostic artificial intelligence algorithms in digital pathology

Tissue detection is a crucial first step in most digital pathology applications. Details of the segmentation algorithm are rarely reported, and there is a lack of studies investigating the downstream effects of a poor segmentation algorithm. Disregarding tissue detection quality could create a bottleneck for downstream performance and jeopardize patient safety if diagnostically relevant parts of the specimen are excluded from analysis in clinical applications. This study aims to determine whether performance of downstream tasks is sensitive to the tissue detection method, and to compare performance of classical and AI-based tissue detection. To this end, we trained an AI model for Gleason grading of prostate cancer in whole slide images (WSIs) using two different tissue detection algorithms: thresholding (classical) and UNet++ (AI). A total of 33,823 WSIs scanned on five digital pathology scanners were used to train the tissue detection AI model. The downstream Gleason grading algorithm was trained and tested using 70,524 WSIs from 13 clinical sites scanned on 13 different scanners. There was a decrease from 116 (0.43%) to 22 (0.08%) fully undetected tissue samples when switching from thresholding-based tissue detection to AI-based, suggesting an AI model may be more reliable than a classical model for avoiding total failures on slides with unusual appearance. On the slides where tissue could be detected by both algorithms, no significant difference in overall Gleason grading performance was observed. However, tissue detection dependent clinically significant variations in AI grading were observed in 3.5% of malignant slides, highlighting the importance of robust tissue detection for optimal clinical performance of diagnostic AI.

Automatic Prostate Volume Estimation in Transabdominal Ultrasound Images

Prostate cancer is a leading health concern among men, requiring accurate and accessible methods for early detection and risk stratification. Prostate volume (PV) is a key parameter in multivariate risk stratification for early prostate cancer detection, commonly estimated using transrectal ultrasound (TRUS). While TRUS provides precise prostate volume measurements, its invasive nature often compromises patient comfort. Transabdominal ultrasound (TAUS) provides a non-invasive alternative but faces challenges such as lower image quality, complex interpretation, and reliance on operator expertise. This study introduces a new deep-learning-based framework for automatic PV estimation using TAUS, emphasizing its potential to enable accurate and non-invasive prostate cancer risk stratification. A dataset of TAUS videos from 100 individual patients was curated, with manually delineated prostate boundaries and calculated diameters by an expert clinician as ground truth. The introduced framework integrates deep-learning models for prostate segmentation in both axial and sagittal planes, automatic prostate diameter estimation, and PV calculation. Segmentation performance was evaluated using Dice correlation coefficient (%) and Hausdorff distance (mm). Framework's volume estimation capabilities were evaluated on volumetric error (mL). The framework demonstrates that it can estimate PV from TAUS videos with a mean volumetric error of -5.5 mL, which results in an average relative error between 5 and 15%. The introduced framework for automatic PV estimation from TAUS images, utilizing deep learning models for prostate segmentation, shows promising results. It effectively segments the prostate and estimates its volume, offering potential for reliable, non-invasive risk stratification for early prostate detection.

PolypSegTrack: Unified Foundation Model for Colonoscopy Video Analysis

Early detection, accurate segmentation, classification and tracking of polyps during colonoscopy are critical for preventing colorectal cancer. Many existing deep-learning-based methods for analyzing colonoscopic videos either require task-specific fine-tuning, lack tracking capabilities, or rely on domain-specific pre-training. In this paper, we introduce \textit{PolypSegTrack}, a novel foundation model that jointly addresses polyp detection, segmentation, classification and unsupervised tracking in colonoscopic videos. Our approach leverages a novel conditional mask loss, enabling flexible training across datasets with either pixel-level segmentation masks or bounding box annotations, allowing us to bypass task-specific fine-tuning. Our unsupervised tracking module reliably associates polyp instances across frames using object queries, without relying on any heuristics. We leverage a robust vision foundation model backbone that is pre-trained unsupervisedly on natural images, thereby removing the need for domain-specific pre-training. Extensive experiments on multiple polyp benchmarks demonstrate that our method significantly outperforms existing state-of-the-art approaches in detection, segmentation, classification, and tracking.

Hybrid CNN with Chebyshev Polynomial Expansion for Medical Image Analysis

Lung cancer remains one of the leading causes of cancer-related mortality worldwide, with early and accurate diagnosis playing a pivotal role in improving patient outcomes. Automated detection of pulmonary nodules in computed tomography (CT) scans is a challenging task due to variability in nodule size, shape, texture, and location. Traditional Convolutional Neural Networks (CNNs) have shown considerable promise in medical image analysis; however, their limited ability to capture fine-grained spatial-spectral variations restricts their performance in complex diagnostic scenarios. In this study, we propose a novel hybrid deep learning architecture that incorporates Chebyshev polynomial expansions into CNN layers to enhance expressive power and improve the representation of underlying anatomical structures. The proposed Chebyshev-CNN leverages the orthogonality and recursive properties of Chebyshev polynomials to extract high-frequency features and approximate complex nonlinear functions with greater fidelity. The model is trained and evaluated on benchmark lung cancer imaging datasets, including LUNA16 and LIDC-IDRI, achieving superior performance in classifying pulmonary nodules as benign or malignant. Quantitative results demonstrate significant improvements in accuracy, sensitivity, and specificity compared to traditional CNN-based approaches. This integration of polynomial-based spectral approximation within deep learning provides a robust framework for enhancing automated medical diagnostics and holds potential for broader applications in clinical decision support systems.

Universal Lymph Node Detection in Multiparametric MRI with Selective Augmentation

Robust localization of lymph nodes (LNs) in multiparametric MRI (mpMRI) is critical for the assessment of lymphadenopathy. Radiologists routinely measure the size of LN to distinguish benign from malignant nodes, which would require subsequent cancer staging. Sizing is a cumbersome task compounded by the diverse appearances of LNs in mpMRI, which renders their measurement difficult. Furthermore, smaller and potentially metastatic LNs could be missed during a busy clinical day. To alleviate these imaging and workflow problems, we propose a pipeline to universally detect both benign and metastatic nodes in the body for their ensuing measurement. The recently proposed VFNet neural network was employed to identify LN in T2 fat suppressed and diffusion weighted imaging (DWI) sequences acquired by various scanners with a variety of exam protocols. We also use a selective augmentation technique known as Intra-Label LISA (ILL) to diversify the input data samples the model sees during training, such that it improves its robustness during the evaluation phase. We achieved a sensitivity of $\sim$83\% with ILL vs. $\sim$80\% without ILL at 4 FP/vol. Compared with current LN detection approaches evaluated on mpMRI, we show a sensitivity improvement of $\sim$9\% at 4 FP/vol.

Evaluation of Vision Transformers for Multimodal Image Classification: A Case Study on Brain, Lung, and Kidney Tumors

Neural networks have become the standard technique for medical diagnostics, especially in cancer detection and classification. This work evaluates the performance of Vision Transformers architectures, including Swin Transformer and MaxViT, in several datasets of magnetic resonance imaging (MRI) and computed tomography (CT) scans. We used three training sets of images with brain, lung, and kidney tumors. Each dataset includes different classification labels, from brain gliomas and meningiomas to benign and malignant lung conditions and kidney anomalies such as cysts and cancers. This work aims to analyze the behavior of the neural networks in each dataset and the benefits of combining different image modalities and tumor classes. We designed several experiments by fine-tuning the models on combined and individual image modalities. The results revealed that the Swin Transformer provided high accuracy, achieving up to 99.9\% for kidney tumor classification and 99.3\% accuracy in a combined dataset. MaxViT also provided excellent results in individual datasets but performed poorly when data is combined. This research highlights the adaptability of Transformer-based models to various image modalities and features. However, challenges persist, including limited annotated data and interpretability issues. Future works will expand this study by incorporating other image modalities and enhancing diagnostic capabilities. Integrating these models across diverse datasets could mark a pivotal advance in precision medicine, paving the way for more efficient and comprehensive healthcare solutions.

Opportunistic Screening for Pancreatic Cancer using Computed Tomography Imaging and Radiology Reports

Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive cancer, with most cases diagnosed at stage IV and a five-year overall survival rate below 5%. Early detection and prognosis modeling are crucial for improving patient outcomes and guiding early intervention strategies. In this study, we developed and evaluated a deep learning fusion model that integrates radiology reports and CT imaging to predict PDAC risk. The model achieved a concordance index (C-index) of 0.6750 (95% CI: 0.6429, 0.7121) and 0.6435 (95% CI: 0.6055, 0.6789) on the internal and external dataset, respectively, for 5-year survival risk estimation. Kaplan-Meier analysis demonstrated significant separation (p<0.0001) between the low and high risk groups predicted by the fusion model. These findings highlight the potential of deep learning-based survival models in leveraging clinical and imaging data for pancreatic cancer.

Automatic Robotic-Assisted Diffuse Reflectance Spectroscopy Scanning System

Diffuse Reflectance Spectroscopy (DRS) is a well-established optical technique for tissue composition assessment which has been clinically evaluated for tumour detection to ensure the complete removal of cancerous tissue. While point-wise assessment has many potential applications, incorporating automated large-area scanning would enable holistic tissue sampling with higher consistency. We propose a robotic system to facilitate autonomous DRS scanning with hybrid visual servoing control. A specially designed height compensation module enables precise contact condition control. The evaluation results show that the system can accurately execute the scanning command and acquire consistent DRS spectra with comparable results to the manual collection, which is the current gold standard protocol. Integrating the proposed system into surgery lays the groundwork for autonomous intra-operative DRS tissue assessment with high reliability and repeatability. This could reduce the need for manual scanning by the surgeon while ensuring complete tumor removal in clinical practice.