在患有细胞癌的患者中基因突变概况和临床意义
Yongquan Wang1, Peng He1, Xiaozhou Zhou1
1Department of Urology, Southwest Hospital, Third Military Medical University (Army Medical University), Shapingba District, Chongqing, China.
Clinics (Sao Paulo, Brazil)
|July 29, 2023
概括
细胞癌 (RCC) 的基因突变会影响患者的治疗结果. 像BAP1和PBRM1这样的特定突变与生存有关,而其他突变则影响向治疗中的无进展生存.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
背景情况:
- 细胞癌 (RCC) 病原体需要进一步阐明.
- 了解基因突变景观对于预测RCC患者预后至关重要.
研究的目的:
- 调查RCC患者基因突变的情况.
- 评估这些突变的临床意义及其与预后的相关性.
主要方法:
- 在42名RCC患者的组织和血液样本上进行下一代测序 (NGS).
- 基因突变景观与临床数据 (TNM分期,RENAL得分,治疗) 的分析.
- 对突变概况和患者结局的比较分析.
主要成果:
- 在75%的患者中发现了BAP1,PBRM1,SETD2和其他常见突变.
- 与晚期/转移性疾病相关的EGFR,POLE,RB1突变.
- SETD2,BAP1,PBRM1与无病生存 (DFS) 相关;SETD1,NPM1,CSF1R突变影响有针对性治疗的无进展生存 (PFS).
结论:
- 野生型PBRM1和突变的BAP1与RCC患者的结局相关.
- 在RCC患者中,SETD2,NPM1和CSF1R的突变与较短的PFS有关.
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