Hu Zishuo Ian, Pavlick Dean C, Ross Jeffrey S, Lee Sunyoung S, Eluri Madhulika, Javle Milind
MD Anderson Cancer Center, Houston, TX.
Foundation Medicine, Cambridge, MA.
JCO Precis Oncol. 2025 Jan;9:e2400712. doi: 10.1200/PO-24-00712. Epub 2025 Jan 7.
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 () mutations, fibroblast growth factor receptor 2 () rearrangements, and 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.
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.
The mean age of AA patients with BTCs was lower compared with Caucasians. and alterations were significantly more frequent in AA patients compared with Caucasian patients with BTCs. mutations in Caucasian patients with BTCs were double that of AA patients.
The results of this study suggest that significant genomic differences exist between races and warrant further investigation.
胆道癌（BTCs）包括肝内胆管癌（ICC）、肝外胆管癌（ECC）和胆囊癌。BTCs存在多种基因组改变，包括异柠檬酸脱氢酶1（）突变、成纤维细胞生长因子受体2（）重排以及扩增。在美国，针对这些改变的疗法已在BTCs患者中显示出临床益处。然而，BTCs种族间的分子差异在很大程度上尚不清楚。特别是，非裔美国（AA）BTCs患者的基因组概况鲜有报道。我们试图在Foundation Medicine和美国癌症研究协会（AACR）的GENIE数据库中确定美国AA和白种人BTCs患者之间的关键基因组差异。
对Foundation Medicine和AACR GENIE数据库中的AA BTC患者和白种人患者进行回顾性分析。在Foundation Medicine数据库中，BTCs分为ICC、ECC和胆囊癌（GBCs）。在AACR GENIE数据库中，BTCs分为胆管癌和GBCs。
与白种人相比，AA BTC患者的平均年龄较低。与白种人BTC患者相比，AA患者中的和改变明显更常见。白种人BTC患者中的突变是AA患者的两倍。
本研究结果表明种族间存在显著的基因组差异，值得进一步研究。
