Chondrosarcomas (CSs) are generally slow-growing tumors of cartilage-producing cells, and the second most common primary bone malignancy following osteosarcoma. CSs are typically resistant to conventional chemo- and radiotherapy, and aggressive surgical resection with wide margins remains the only effective treatment option. Immunotherapies and targeted therapies in CSs have failed in clinical trials, and no prognostic biomarkers exist within the clinic. Although CSs have undergone histologic and genetic analysis, the molecular mechanisms that drive their pathogenesis and resistance are still largely unknown. A deeper understanding of the molecular biology and dysregulated pathways in CSs is essential for more efficient precision therapies. Several integrated large-scale genetic and epigenetic studies have recently been reported in CS, with several distinguished pathways holding therapeutic promise. In this review, we summarize the advances in the molecular biology of CSs, focusing on both genomic and epigenomic mechanisms as well as potential biomarkers and targets. These studies highlight several valuable clinical opportunities for earlier detection, prognostic accuracy, and therapeutic targeting that may improve patient outcomes in CSs.
软骨肉瘤是一种由软骨生成细胞形成的生长缓慢的肿瘤，是继骨肉瘤之后第二常见的原发性骨恶性肿瘤。该肿瘤通常对传统化疗和放疗具有耐药性，广泛边缘的根治性手术切除仍是唯一有效的治疗选择。针对软骨肉瘤的免疫疗法和靶向治疗在临床试验中均告失败，且临床上缺乏预后生物标志物。尽管已对软骨肉瘤进行了组织学和遗传学分析，但其发病机制和耐药性的分子机制在很大程度上仍不明确。深入理解软骨肉瘤的分子生物学特征及失调通路对于开发更有效的精准治疗至关重要。近期多项整合性大规模遗传学与表观遗传学研究揭示了若干具有治疗前景的关键通路。本综述系统总结了软骨肉瘤分子生物学研究进展，重点关注基因组与表观基因组机制、潜在生物标志物及治疗靶点。这些研究为早期检测、精准预后评估及靶向治疗提供了重要临床机遇，有望改善软骨肉瘤患者的临床结局。
Advances in the Molecular Biology of Chondrosarcoma for Drug Discovery and Precision Medicine
肿瘤(癌症)患者之家