文章：

骨肉瘤多组学景观与亚型分析

Osteosarcoma Multi-Omics Landscape and Subtypes

原文发布日期：13 October 2023

DOI: 10.3390/cancers15204970

类型: Article

开放获取: 是

英文摘要：

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.

摘要翻译： 

骨肉瘤（OS）是最常见的原发性骨恶性肿瘤，具有显著的病理组织学多样性和遗传异质性。骨肉瘤的复杂性使得对该疾病的精确分子分型、预后评估及疗效预测面临挑战。本研究通过对86例骨肉瘤肿瘤样本进行多平台综合分析，包括体细胞拷贝数变异、基因表达和甲基化分析，识别出三种分子特征迥异且具有临床相关性的骨肉瘤亚型。该亚型分类标准在另一组骨肉瘤队列中得到验证。基于此亚型分类，研究揭示了特定基因在拷贝数、表达和甲基化方面先前未被充分认识的骨肉瘤亚型特异性改变。该亚型分类及新型基因特征为优化骨肉瘤治疗策略及其与其他癌症类型的关联研究提供了新的见解。

原文链接：

Osteosarcoma Multi-Omics Landscape and Subtypes