突变与瘤突变负担增加和卵巢癌中免疫细胞透有关
Laura M Harbin1, Nan Lin2, Frederick R Ueland1
1Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Kentucky Markey Cancer Center, 800 Rose Street, Lexington, KY 20536-0596, USA.
International journal of molecular sciences
|September 28, 2023
概括
卵巢癌患者患有复发性疾病时,SYNE1突变更为常见. 这些突变与较高的瘤突变负担和增加的免疫细胞透相关,这表明SYNE1是免疫治疗反应的潜在生物标志物.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
背景情况:
- 核包膜蛋白SYNE1在许多癌症中被下调,包括妇科和卵巢癌.
- 以前的研究将SYNE1突变与增加的瘤突变负担 (TMB) 以及改善免疫治疗结果联系起来.
研究的目的:
- 为了研究卵巢癌中SYNE1突变频率.
- 评估SYNE1突变,TMB和免疫反应之间的关联.
- 评估SYNE1作为卵巢癌免疫治疗的潜在生物标志物.
主要方法:
- 卵巢癌患者的基因分析,包括全外组测序和RNA分析.
- 机构队列和癌症基因组图谱 (TCGA) 之间的突变频率的比较.
- 生物信息学分析以评估与免疫反应相关的TMB和基因表达.
主要成果:
- 在32%的机构队列中发现了SYNE1突变,明显高于TCGA (6%).
- 在SYNE1突变患者中,TMB的中位数为25,而在野生型患者中为7 (p < 0.0001).
- 在SYNE1突变瘤中观察到与免疫细胞贩运和炎症反应相关的基因表达增加.
结论:
- 在卵巢癌中,SYNE1突变与TMB增加和免疫细胞透显著相关.
- 在卵巢癌患者中,SYNE1的改变可能是预测免疫治疗反应的有价值的生物标志物.
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