Felix J. Dorfner

Felix J. Dorfner, Amin Dada, Felix Busch et al.

Large language models (LLMs) have shown potential in biomedical applications, leading to efforts to fine-tune them on domain-specific data. However, the effectiveness of this approach remains unclear. This study evaluates the performance of biomedically fine-tuned LLMs against their general-purpose counterparts on a variety of clinical tasks. We evaluated their performance on clinical case challenges from the New England Journal of Medicine (NEJM) and the Journal of the American Medical Association (JAMA) and on several clinical tasks (e.g., information extraction, document summarization, and clinical coding). Using benchmarks specifically chosen to be likely outside the fine-tuning datasets of biomedical models, we found that biomedical LLMs mostly perform inferior to their general-purpose counterparts, especially on tasks not focused on medical knowledge. While larger models showed similar performance on case tasks (e.g., OpenBioLLM-70B: 66.4% vs. Llama-3-70B-Instruct: 65% on JAMA cases), smaller biomedical models showed more pronounced underperformance (e.g., OpenBioLLM-8B: 30% vs. Llama-3-8B-Instruct: 64.3% on NEJM cases). Similar trends were observed across the CLUE (Clinical Language Understanding Evaluation) benchmark tasks, with general-purpose models often performing better on text generation, question answering, and coding tasks. Our results suggest that fine-tuning LLMs to biomedical data may not provide the expected benefits and may potentially lead to reduced performance, challenging prevailing assumptions about domain-specific adaptation of LLMs and highlighting the need for more rigorous evaluation frameworks in healthcare AI. Alternative approaches, such as retrieval-augmented generation, may be more effective in enhancing the biomedical capabilities of LLMs without compromising their general knowledge.

Hartmut Häntze, Lina Xu, Christian J. Mertens et al.

Purpose: To develop and evaluate a deep learning model for multi-organ segmentation of MRI scans. Materials and Methods: The model was trained on 1,200 manually annotated 3D axial MRI scans from the UK Biobank, 221 in-house MRI scans, and 1228 CT scans from the TotalSegmentator dataset. A human-in-the-loop annotation workflow was employed, leveraging cross-modality transfer learning from an existing CT segmentation model to segment 40 anatomical structures. The annotation process began with a model based on transfer learning between CT and MR, which was iteratively refined based on manual corrections to predicted segmentations. The model's performance was evaluated on MRI examinations obtained from the German National Cohort (NAKO) study (n=900) from the AMOS22 dataset (n=60) and from the TotalSegmentator-MRI test data (n=29). The Dice Similarity Coefficient (DSC) and Hausdorff Distance (HD) were used to assess segmentation quality, stratified by organ and scan type. The model and its weights will be open-sourced. Results: MRSegmentator demonstrated high accuracy for well-defined organs (lungs: DSC 0.96, heart: DSC 0.94) and organs with anatomic variability (liver: DSC 0.96, kidneys: DSC 0.95). Smaller structures showed lower accuracy (portal/splenic veins: DSC 0.64, adrenal glands: DSC 0.69). On external validation using NAKO data, mean DSC ranged from 0.85 $\pm$ 0.08 for T2-HASTE to 0.91 $\pm$ 0.05 for in-phase sequences. The model generalized well to CT, achieving mean DSC of 0.84 $\pm$ 0.11 on AMOS CT data. Conclusion: MRSegmentator accurately segments 40 anatomical structures in MRI across diverse datasets and imaging protocols, with additional generalizability to CT images. This open-source model will provide a valuable tool for automated multi-organ segmentation in medical imaging research. It can be downloaded from https://github.com/hhaentze/MRSegmentator.

Felix J. Dorfner, Manon A. Dorster, Ryan Connolly et al.

Foundation models have shown promise in medical imaging but remain underexplored for three-dimensional imaging modalities. No foundation model currently exists for Digital Breast Tomosynthesis (DBT), despite its use for breast cancer screening. To develop and evaluate a foundation model for DBT (DBT-DINO) across multiple clinical tasks and assess the impact of domain-specific pre-training. Self-supervised pre-training was performed using the DINOv2 methodology on over 25 million 2D slices from 487,975 DBT volumes from 27,990 patients. Three downstream tasks were evaluated: (1) breast density classification using 5,000 screening exams; (2) 5-year risk of developing breast cancer using 106,417 screening exams; and (3) lesion detection using 393 annotated volumes. For breast density classification, DBT-DINO achieved an accuracy of 0.79 (95\% CI: 0.76--0.81), outperforming both the MetaAI DINOv2 baseline (0.73, 95\% CI: 0.70--0.76, p<.001) and DenseNet-121 (0.74, 95\% CI: 0.71--0.76, p<.001). For 5-year breast cancer risk prediction, DBT-DINO achieved an AUROC of 0.78 (95\% CI: 0.76--0.80) compared to DINOv2's 0.76 (95\% CI: 0.74--0.78, p=.57). For lesion detection, DINOv2 achieved a higher average sensitivity of 0.67 (95\% CI: 0.60--0.74) compared to DBT-DINO with 0.62 (95\% CI: 0.53--0.71, p=.60). DBT-DINO demonstrated better performance on cancerous lesions specifically with a detection rate of 78.8\% compared to Dinov2's 77.3\%. Using a dataset of unprecedented size, we developed DBT-DINO, the first foundation model for DBT. DBT-DINO demonstrated strong performance on breast density classification and cancer risk prediction. However, domain-specific pre-training showed variable benefits on the detection task, with ImageNet baseline outperforming DBT-DINO on general lesion detection, indicating that localized detection tasks require further methodological development.

Felix J. Dorfner, Janis L. Vahldiek, Leonhard Donle et al.

Purpose: To examine whether incorporating anatomical awareness into a deep learning model can improve generalizability and enable prediction of disease progression. Methods: This retrospective multicenter study included conventional pelvic radiographs of 4 different patient cohorts focusing on axial spondyloarthritis (axSpA) collected at university and community hospitals. The first cohort, which consisted of 1483 radiographs, was split into training (n=1261) and validation (n=222) sets. The other cohorts comprising 436, 340, and 163 patients, respectively, were used as independent test datasets. For the second cohort, follow-up data of 311 patients was used to examine progression prediction capabilities. Two neural networks were trained, one on images cropped to the bounding box of the sacroiliac joints (anatomy-aware) and the other one on full radiographs. The performance of the models was compared using the area under the receiver operating characteristic curve (AUC), accuracy, sensitivity, and specificity. Results: On the three test datasets, the standard model achieved AUC scores of 0.853, 0.817, 0.947, with an accuracy of 0.770, 0.724, 0.850. Whereas the anatomy-aware model achieved AUC scores of 0.899, 0.846, 0.957, with an accuracy of 0.821, 0.744, 0.906, respectively. The patients who were identified as high risk by the anatomy aware model had an odds ratio of 2.16 (95% CI: 1.19, 3.86) for having progression of radiographic sacroiliitis within 2 years. Conclusion: Anatomical awareness can improve the generalizability of a deep learning model in detecting radiographic sacroiliitis. The model is published as fully open source alongside this study.

Hartmut Häntze, Lina Xu, Maximilian Rattunde et al.

Computed tomography (CT) segmentation models often contain classes that are not currently supported by magnetic resonance imaging (MRI) segmentation models. In this study, we show that a simple image inversion technique can significantly improve the segmentation quality of CT segmentation models on MRI data. We demonstrate the feasibility for both a general multi-class and a specific renal carcinoma model for segmenting T1-weighted MRI images. Using this technique, we were able to localize and segment clear cell renal cell carcinoma in T1-weighted MRI scans, using a model that was trained on only CT data. Image inversion is straightforward to implement and does not require dedicated graphics processing units, thus providing a quick alternative to complex deep modality-transfer models. Our results demonstrate that existing CT models, including pathology models, might be transferable to the MRI domain with reasonable effort.

Manon A. Dorster, Felix J. Dorfner, Mason C. Cleveland et al.

As early detection of breast cancer strongly favors successful therapeutic outcomes, there is major commercial interest in optimizing breast cancer screening. However, current risk prediction models achieve modest performance and do not incorporate digital breast tomosynthesis (DBT) imaging, which was FDA-approved for breast cancer screening in 2011. To address this unmet need, we present a deep learning (DL)-based framework capable of forecasting an individual patient's 5-year breast cancer risk directly from screening DBT. Using an unparalleled dataset of 161,753 DBT examinations from 50,590 patients, we trained a risk predictor based on features extracted using the Meta AI DINOv2 image encoder, combined with a cumulative hazard layer, to assess a patient's likelihood of developing breast cancer over five years. On a held-out test set, our best-performing model achieved an AUROC of 0.80 on predictions within 5 years. These findings reveal the high potential of DBT-based DL approaches to complement traditional risk assessment tools, and serve as a promising basis for additional investigation to validate and enhance our work.