清细胞脏细胞癌中瘤大小之间的突变差异
Steven M Monda1,2, Benjamin W Carney2, Allison M May3
1Department of Urologic Surgery, UC Davis, Sacramento, CA, USA.
BJU international
|September 12, 2024
概括
清细胞细胞癌 (ccRCC) 显示基因组差异基于瘤大小. 像SETD2,BAP1和CDKN2A损失这样的侵略性突变在较大的ccRCC中更为常见,但仍然影响较小的瘤.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
背景情况:
- 清细胞细胞癌 (ccRCC) 是最常见的癌亚型.
- 瘤大小是ccRCC中已知的预后因素.
- 了解ccRCC相对于瘤大小的基因组景观对于向治疗至关重要.
研究的目的:
- 在ccRCC.中研究瘤大小与关键突变 (VHL,PBRM1,SETD2,BAP1,CDKN2A损失) 的分布之间的关联.
- 评估较小ccRCCs (≤7厘米) 中攻击性突变的预后意义.
主要方法:
- 分析了来自TRACERx,TCGA和CAGEKID队列的1039名ccRCC患者的突变数据.
- 后勤回归建模以将突变存在与瘤大小相关联.
- 对瘤的侵袭性突变的生存和转移分析≤7厘米,控制瘤大小.
主要成果:
- 瘤大小与攻击性突变SETD2,BAP1和CDKN2A损失 (P<0.001) 有积极的关联.
- VHL与尺寸 (P=0.01) 有轻微的负相关性,而PBRM1没有显著的相关性.
- 在ccRCCs ≤7厘米,SETD2和CDKN2A损失与转移性疾病相关 (ORs ~3.86,P<0.05) 和CDKN2A损失与整体存活率较差 (HR 2.19,P=0.03).
结论:
- ccRCC根据瘤大小表现出不同的基因组概况.
- 在小ccRCC中,侵略性突变的发生较少,但对于转移,存活和复发仍然具有预后意义.
- 这些发现凸显了分子分析的重要性,即使在较小的ccRCC中也是如此.
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