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在晚期胃肠道癌症中甲基氨酸酸化酶基因组损失

Natalie Y L Ngoi^1,2, Tin-Yun Tang³, Catia F Gaspar¹

¹Department of Investigational Cancer Therapeutics, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

|February 8, 2024

概括

甲基氨酸酸化酶 (MTAP) 损失发生在8.3%的胃肠道癌症中,特别是胰腺癌. 这种基因组改变会影响胃肠道瘤的治疗策略和预后结果.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
癌症研究癌症研究

背景情况:

9p21删除,一种常见的癌症事件,包括甲基铁氨酸酸化酶 (MTAP),CDKN2A和CDKN2B基因,与预后不佳和免疫疗法耐药性有关.
MTAP损失是一个新兴的药物标,抑制剂利用合成致死性.

研究的目的:

确定晚期胃肠道 (GI) 癌症中MTAP损失的患病率和基因组特征.
评估MTAP损失作为胃肠道瘤的预后生物标志物.

主要方法:

下一代测序和对5种胃肠道癌症类型中的64,860种瘤的比较基因组分析.
追溯分析比较MTAP损失与MTAP无损的胃肠道瘤的临床结果.

主要成果:

在8.3%的胃肠道癌中发现了MTAP损失,胰腺管腺癌 (PDAC) 最常见 (21.7%),结直肠癌 (CRC) 最少 (1.1%).
MTAP损失瘤显示出明显的基因组变化和较低的微卫星不稳定性或高瘤突变负担.
在MTAP损失的肝内胆固醇癌 (IHCC) 中,PD-L1表达的频率较低.

结论:

作为9p21损失的一部分的MTAP损失,在肠道癌中患病率为8%,根据亚型有显著差异 (例如,PDAC中22%,CRC中1.1%).
MTAP损失与其他可向突变不相互排斥,这表明了复杂的治疗含义.

关键词:

9p21 亏损的情况在MTAP中损失.生物标志物生物标志物胆瘤是一种胆瘤.基因组学就是基因组学.瘤是一个瘤.

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