Tang Shan, Roberts Ryan D, Cheng Lijun, Li Lang
College of Pharmacy, The Ohio State University, Columbus, OH 43210, USA.
Department of Biomedical Informatics, College of Medicine, The Ohio State University, Columbus, OH 43210, USA.
Cancers (Basel). 2023 Oct 13;15(20):4970. doi: 10.3390/cancers15204970.
Osteosarcoma (OS) is the most common primary bone malignancy that exhibits remarkable histologic diversity and genetic heterogeneity. The complex nature of osteosarcoma has confounded precise molecular categorization, prognosis, and prediction for this disease. In this study, we performed a comprehensive multiplatform analysis on 86 osteosarcoma tumors, including somatic copy-number alteration, gene expression and methylation, and identified three molecularly distinct and clinically relevant subtypes of osteosarcoma. The subgrouping criteria was validated on another cohort of osteosarcoma tumors. Previously unappreciated osteosarcoma-type-specific changes in specific genes' copy number, expression and methylation were revealed based on the subgrouping. The subgrouping and novel gene signatures provide insights into refining osteosarcoma therapy and relationships to other types of cancer.
骨肉瘤（OS）是最常见的原发性骨恶性肿瘤，具有显著的组织学多样性和基因异质性。骨肉瘤的复杂性质使得对该疾病进行精确的分子分类、预后评估和预测变得困难。在本研究中，我们对86例骨肉瘤肿瘤进行了全面的多平台分析，包括体细胞拷贝数改变、基因表达和甲基化，并确定了骨肉瘤的三种分子上不同且与临床相关的亚型。该亚组分类标准在另一组骨肉瘤肿瘤中得到了验证。基于亚组分类，揭示了特定基因拷贝数、表达和甲基化方面以前未被认识到的骨肉瘤类型特异性变化。该亚组分类和新的基因特征为优化骨肉瘤治疗以及骨肉瘤与其他类型癌症的关系提供了见解。
