Shifeng Xu1, Yuan Guo2, Yanwu Zeng3, Zhijian Song3, Xiaodan Zhu4, Ning Fan2, Zhilei Zhang5, Guibing Ren6, Yunjin Zang7, Wei Rao8. 1. Department of Hepatobiliary Surgery, Shandong Provincial Hospital affiliated to Shandong First Medical University, Shandong, China. 2. Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, China. 3. Origimed, Shanghai, China. 4. Organ Transplant Center, The Affiliated Hospital of Qingdao University, Qingdao, China. 5. Department of Hepatobiliary Surgery, The Fourth Hospital of Hebei Medical University, Hebei, China. 6. Oncology Department, The Armed Police Characteristic Medical Center, Hebei, China. 7. Organ Transplant Center, The Affiliated Hospital of Qingdao University, Haier Road No. 59, Qingdao, 266000, Laoshan District, China. zangyj3657@qq.com. 8. Organ Transplant Center, The Affiliated Hospital of Qingdao University, Haier Road No. 59, Qingdao, 266000, Laoshan District, China. qdfy_raowei@126.com.
Abstract
BACKGROUND: The goal of this study is to disclose the clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma. METHODS: A total of 86 Chinese patients were enrolled in this study. A panel of 579 pan-cancer genes was sequenced for the qualified samples from these patients. Driver genes, actionability, and tumor mutational burden were inferred and compared to a cohort of Western patients. RESULTS: Totally, 36 and 12 driver genes were identified in the Chinese and Western cohorts, respectively. Of them, seven driver genes (IDH1, KRAS, TP53, BAP1, PBRM1, ARID1A, and NRAS) were shared by the two cohorts. Four driver genes (SPTA1, ARID2, TP53, and GATA1) were found significantly correlated with the tumor mutational burden. For both cohorts, half of the patients had actionable mutations. The two cohorts shared the most actionable genes but differed much in their frequency. Though KRAS mutations were at the first and second actionable rank respectively for the Chinese and Western populations, they were still at a relatively low level of actionable evidence. CONCLUSIONS: The study on the clinical significance of genomic alterations directs the future development of precision medicine for intrahepatic cholangiocarcinoma treatment.
BACKGROUND: The goal of this study is to disclose the clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma. METHODS: A total of 86 Chinese patients were enrolled in this study. A panel of 579 pan-cancer genes was sequenced for the qualified samples from these patients. Driver genes, actionability, and tumor mutational burden were inferred and compared to a cohort of Western patients. RESULTS: Totally, 36 and 12 driver genes were identified in the Chinese and Western cohorts, respectively. Of them, seven driver genes (IDH1, KRAS, TP53, BAP1, PBRM1, ARID1A, and NRAS) were shared by the two cohorts. Four driver genes (SPTA1, ARID2, TP53, and GATA1) were found significantly correlated with the tumor mutational burden. For both cohorts, half of the patients had actionable mutations. The two cohorts shared the most actionable genes but differed much in their frequency. Though KRAS mutations were at the first and second actionable rank respectively for the Chinese and Western populations, they were still at a relatively low level of actionable evidence. CONCLUSIONS: The study on the clinical significance of genomic alterations directs the future development of precision medicine for intrahepatic cholangiocarcinoma treatment.
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