鉴定具有临床影响的基因组变异,对犬骨血类肉瘤产生临床影响
Timothy Estabrooks1, Anastasia Gurinovich2, Jodie Pietruska3
1Cummings School of Veterinary Medicine, Tufts University, North Grafton, Massachusetts, USA.
Veterinary and comparative oncology
|September 21, 2023
概括
狗血肉瘤 (HSA) 的基因组分析揭示了与生存和临床因素相关的关键突变和变异. 这项研究支持对狗的精准医学,并提供了对人类血管肉瘤的见解.
科学领域:
- 兽医瘤学 兽医瘤学
- 基因组学就是基因组学.
- 比较瘤学 的比较.
背景情况:
- 狗血肉瘤 (HSA) 是一种具有不良预后的侵袭性癌症.
- 了解HSA的基因组概况可以推进兽医瘤学,并为人类血管肉瘤治疗提供信息.
研究的目的:
- 为兽医精准医学中的真实世界基因组和临床数据建立一个框架.
- 调查犬骨HSA中的基因组和临床特征关系.
主要方法:
- 对109只患有骨HSA的狗进行回顾性分析.
- 使用FidoCure®精密医学平台进行瘤测序.
- 评估患者的信号,体重,转移和存活率.
主要成果:
- 最常见的体质突变:TP53 (44),NRAS (20),PIK3CA (19). 这种突变是最常见的.
- 在诊断时与转移相关的生存率和SETD2和NOTCH1.1.中的生殖系变异.
- 年龄和品种与NRAS突变相关;大型狗的TP53/PIK3CA突变;小型狗的SETD2变异.
结论:
- 确定了与临床变量 (年龄,品种,存活率) 相关联的体质突变和生殖系变异.
- 这些遗传变化可能成为犬血肉瘤的预后因素.
- 这些发现为HSA.的基因组景观提供了有价值的见解.
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