Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma

• Published in: BMC cancer 2021-02, Vol.21 (1), p.152-152, Article 152
• Main Authors: Xu, Shifeng, Guo, Yuan, Zeng, Yanwu, Song, Zhijian, Zhu, Xiaodan, Fan, Ning, Zhang, Zhilei, Ren, Guibing, Zang, Yunjin, Rao, Wei
• Format: Article
• Language: English
• Subjects: Actionability; Adolescent; Adult; Aged; Aged, 80 and over; Bile Duct Neoplasms - epidemiology; Bile Duct Neoplasms - genetics; Bile Duct Neoplasms - pathology; Biomarkers, Tumor - genetics; Cancer; Cell growth; China - epidemiology; Chinese; Cholangiocarcinoma; Cholangiocarcinoma - epidemiology; Cholangiocarcinoma - genetics; Cholangiocarcinoma - pathology; Clinical significance; Comparative analysis; Datasets; Driver gene; Female; GATA-1 protein; Genes; Genetic aspects; Genomes; Genomic alteration; Genomics; Health aspects; High-Throughput Nucleotide Sequencing - methods; Humans; Immunotherapy; Intrahepatic cholangiocarcinoma; Laboratories; Male; Medical prognosis; Middle Aged; Molecular Targeted Therapy - methods; Mutation; Neoplasm Staging; Oncology, Experimental; Ontology; p53 Protein; Patients; Population; Precision medicine; Prognosis; Quality control; United States - epidemiology; Whites; Young Adult
• ISSN: 1471-2407; 1471-2407
• DOI: 10.1186/s12885-021-07792-x

The goal of this study is to disclose the clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma. 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. 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. The study on the clinical significance of genomic alterations directs the future development of precision medicine for intrahepatic cholangiocarcinoma treatment.