来自AACR GENIE数据库的1407种超罕见肉瘤的变化景观:临床影响
Ryan A Denu1, Justin T Moyers2, Mohamed A Gouda3
1Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas.
概括
超罕见的肉瘤 (URS) 具有临床可操作的基因组改变. 基因组分析可以指导许多患有这些罕见癌症的患者的治疗决策.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 罕见疾病 罕见疾病
背景情况:
- 超罕见的肉瘤 (URS) 是一组发生率非常低的孤儿疾病.
- 了解URS的基因组景观对于开发向疗法至关重要.
研究的目的:
- 评估在超罕见肉瘤 (URS) 中临床可行的基因组改变.
- 评估临床测序的潜力,以指导URS的治疗.
主要方法:
- 数据是通过cBioPortal从GENIE数据库中提取的.
- 使用OncoKB来确定已识别的突变的临床可操作性.
- 瘤突变负担 (TMB) 由临床测序数据推断出来.
主要成果:
- 在URS亚型中,TP53突变和EWSR1融合是常见的.
- 临床可操作的基因组变化 (一至三级) 在URS的很大一部分中被发现.
- 10.0%的软组织URS和1.1%的骨URS有1级可采取行动的变化.
结论:
- 临床可操作的基因组改变存在于大量的URS中.
- 临床测序提供了一种有价值的工具,用于指导晚期URS患者的治疗策略.
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