非裔美国人和白种人患者胆道癌的分子分析。

IF 5.3 2区 医学 Q1 ONCOLOGY JCO precision oncology Pub Date : 2025-01-01 Epub Date: 2025-01-07 DOI:10.1200/PO-24-00712
Zishuo Ian Hu, Dean C Pavlick, Jeffrey S Ross, Sunyoung S Lee, Madhulika Eluri, Milind Javle
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引用次数: 0

摘要

目的:胆道肿瘤包括肝内胆管癌(ICC)、肝外胆管癌(ECC)和胆囊癌。btc具有许多基因组改变,包括异柠檬酸脱氢酶1 (IDH1)突变、成纤维细胞生长因子受体2 (FGFR2)重排和ERBB2扩增。在美国,针对这些改变的治疗方法在btc患者中显示出临床益处。然而,种族间btc的分子差异在很大程度上是未知的。特别是,非洲裔美国人(AA) btc患者的基因组图谱很少被报道。我们试图在基础医学和美国癌症研究协会(AACR) GENIE数据库中确定美国AA和白种人btc患者之间的关键基因组差异。方法:回顾性分析来自AA的BTC患者和来自基础医学和AACR GENIE数据库的白种人患者。在基础医学数据库中将btc分为ICC、ECC和GBCs。在AACR GENIE数据库中将btc分为胆管癌和GBCs。结果:AA合并btc患者的平均年龄低于白种人。与白种人btc患者相比,AA患者的TP53和FGFR2改变明显更频繁。白种人btc患者的IDH1突变是AA患者的两倍。结论:本研究结果提示不同种族之间存在显著的基因组差异,值得进一步研究。
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Molecular Profiling of Biliary Tract Cancers in African American and Caucasian Patients.

Purpose: Biliary tract cancers (BTCs) include intrahepatic cholangiocarcinoma (ICC), extrahepatic cholangiocarcinoma (ECC), and gallbladder cancers. BTCs have a number of genomic alterations, including isocitrate dehydrogenase 1 (IDH1) mutations, fibroblast growth factor receptor 2 (FGFR2) rearrangements, and ERBB2 amplifications. Therapies targeting these alterations have shown clinical benefit in patients with BTCs in the United States. However, molecular differences between races in BTCs are largely unknown. In particular, the genomic profiles of African American (AA) patients with BTCs have been infrequently reported. We sought to identify key genomic differences between AA and Caucasian patients with BTCs in the United States in the Foundation Medicine and American Association for Cancer Research (AACR) GENIE databases.

Methods: BTC patients from AA and Caucasian patients from the Foundation Medicine and AACR GENIE databases were retrospectively reviewed. BTCs were divided into ICC, ECC, and GBCs in the Foundation Medicine database. BTCs were divided into cholangiocarcinomas and GBCs in the AACR GENIE database.

Results: The mean age of AA patients with BTCs was lower compared with Caucasians. TP53 and FGFR2 alterations were significantly more frequent in AA patients compared with Caucasian patients with BTCs. IDH1 mutations in Caucasian patients with BTCs were double that of AA patients.

Conclusion: The results of this study suggest that significant genomic differences exist between races and warrant further investigation.

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