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在零星发病的早期结直肠腺癌患者的综合基因组分析

Ben Ponvilawan^1,2, Phuwanat Sakornsakolpat³, Ananya Pongpaibul⁴

¹Department of Pharmacology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

|February 25, 2025

概括

早期出现的结直肠癌 (CRC) 的基因组变化与成人发病的CRC相似. 然而,NOTCH1,FBXW7,PIK3CA,FGFR3和KRAS G12中的特定突变在年轻人中更为频繁.

科学领域:

癌症的基因组分析.
分子瘤学分子瘤学
胃肠道病理胃肠道病理

背景情况:

全球年轻成年人结直肠癌 (CRC) 发病率上升.
需要了解早期发病的CRC (15-39岁) 的基因组差异.

研究的目的:

评估和比较早期开始的零星CRC中的基因组变化.
确定在年轻成人CRC患者中普遍存在的特定突变.

主要方法:

在90个早期CRC组织样本上进行下一代测序 (517个基因组).
来自具有熟练不匹配修复状态的患者样本的分析.
与以前报告的成人发病CRC分子数据进行比较.

主要成果:

在早期开始的CRC中最常见的突变:APC (66%),TP53 (51%),KRAS (47%),ARID1A (31%),KMT2B (31%).
在早期发病的CRC和成人发病的CRC中,NOTCH1,FBXW7,PIK3CA和FGFR3突变的患病率增加.
在早期发病的CRC中观察到KRAS编码子12突变的更高频率.

结论:

早期发病的CRC的基因组格局在很大程度上与成人发病的CRC相似.
在早期开始的CRC中,NOTCH1,FBXW7,PIK3CA,FGFR3和KRAS G12突变具有丰富性.
需要进行进一步的大规模研究,以探索早期CRC的遗传/表观遗传特征.

关键词:

青少年和年轻成年人结肠直肠癌是一种癌症.早期发病的早期发病.基因组的改变基因组的改变分子特征分子特征.

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