Document Type

Article

Publication Date

5-29-2025

Comments

This article is the author's final published version in Diagnostics, Volume 15, Issue 11, June 2025, 1377.

The published version is available at https://doi.org/10.3390/diagnostics15111377.

Copyright © 2025 by the authors

Abstract

Musculoskeletal tumors present a diagnostic challenge due to their rarity, histological diversity, and overlapping imaging features. Accurate characterization is essential for effective treatment planning and prognosis, yet current diagnostic workflows rely heavily on invasive biopsy and subjective radiologic interpretation. This review explores the evolving role of radiogenomics and machine learning in improving diagnostic accuracy for bone and soft tissue tumors. We examine integrating quantitative imaging features from MRI, CT, and PET with genomic and transcriptomic data to enable non-invasive tumor profiling. AI-powered platforms employing convolutional neural networks (CNNs) and radiomic texture analysis show promising results in tumor grading, subtype differentiation (e.g., Osteosarcoma vs. Ewing sarcoma), and predicting mutation signatures (e.g., TP53, RB1). Moreover, we highlight the use of liquid biopsy and circulating tumor DNA (ctDNA) as emerging diagnostic biomarkers, coupled with point-of-care molecular assays, to enable early and accurate detection in low-resource settings. The review concludes by discussing translational barriers, including data harmonization, regulatory challenges, and the need for multi-institutional datasets to validate AI-based diagnostic frameworks. This article synthesizes current advancements and provides a forward-looking view of precision diagnostics in musculoskeletal oncology.

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

PubMed ID

40506947

Language

English

Download

Share

COinS