中国胆管癌的综合基因组图谱
Comprehensive genomic profile of cholangiocarcinomas in China.
作者信息
Tian Weijun, Hu Weiyu, Shi Xiaoling, Liu Peng, Ma Xiang, Zhao Wei, Qu Linlin, Zhang Shuirong, Shi Weiwei, Liu Angen, Cao Jingyu
机构信息
Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
Department of Hepatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, P.R. China.
出版信息
Oncol Lett. 2020 Apr;19(4):3101-3110. doi: 10.3892/ol.2020.11429. Epub 2020 Mar 3.
Cholangiocarcinoma (CCA) is a primary malignancy, which is often diagnosed as locally advanced or metastatic. Previous studies have revealed genomic characteristics of CCA in Western patients, however comprehensive genomic features of CCA in Chinese patients have not been well understood. To explore the specific genomic characteristics of Chinese patients with CCA, a total of 66 patients with CCA, including 44 intrahepatic CCA (iCCA) and 22 extrahepatic CCA (exCCA) cases, were studied. The most commonly altered genes in CCAs were TP53 (62.12%, 41/66), KRAS (36.36%, 24/66), SMAD4 (24.24%, 16/66), TERT (21.21%, 14/66), ARID1A (19.70%, 13/66), CDKN2A (19.70%, 13/66), KMT2C (9.09%, 6/66) and RBM10 (9.09%, 6/66), ERBB2 (7.58%, 5/66) and BRAF (7.58%, 5/66). Many gene mutations, including STK11, CCND1 and FGF19, were only found in iCCA. RBM10 mutations were found to be significantly higher in exCCA. The gene mutations of neurofibromin 1, STK11, CCND1 and FBXW7 specifically occurred in males, whereas gene mutations of ERBB2, AXIN2 and CREBBP specifically occurred in females. ERBB2 mutations were significantly associated with the sex of patients with CCA. Mutations in PIK3CA, FGFR2 and ZNF750 were significantly associated with the age of patients with CCA and TERT mutations were significantly associated with tumor differentiation. Alterations in KMT2C, PBRM1, AXIN2, MAGI2, BRCA2 and SPTA1 were associated with tumor mutational burden. The findings of the present study suggest that targeted sequencing, using next-generation sequencing technology, provides comprehensive and accurate information on genomic alterations, which will provide novel potential biomarkers for the diagnosis of CCA and may guide precise therapeutic strategies for Chinese patients with CCA.
胆管癌(CCA)是一种原发性恶性肿瘤,通常被诊断为局部晚期或转移性肿瘤。先前的研究揭示了西方患者CCA的基因组特征,然而中国患者CCA的全面基因组特征尚未得到充分了解。为了探索中国CCA患者的特定基因组特征,我们对总共66例CCA患者进行了研究,其中包括44例肝内CCA(iCCA)和22例肝外CCA(exCCA)病例。CCA中最常发生改变的基因是TP53(62.12%,41/66)、KRAS(36.36%,24/66)、SMAD4(24.24%,16/66)、TERT(21.21%,14/66)、ARID1A(19.70%,13/66)、CDKN2A(19.70%,13/66)、KMT2C(9.09%,6/66)和RBM10(9.09%,6/66)、ERBB2(7.58%,5/66)和BRAF(7.58%,5/66)。许多基因突变,包括STK11、CCND1和FGF19,仅在iCCA中发现。RBM10突变在exCCA中显著更高。神经纤维瘤病1、STK11、CCND1和FBXW7的基因突变特别发生在男性中,而ERBB2、AXIN2和CREBBP的基因突变特别发生在女性中。ERBB2突变与CCA患者的性别显著相关。PIK3CA、FGFR2和ZNF750的突变与CCA患者的年龄显著相关,TERT突变与肿瘤分化显著相关。KMT2C、PBRM1、AXIN2、MAGI2、BRCA2和SPTA1的改变与肿瘤突变负担相关。本研究结果表明,使用下一代测序技术进行靶向测序可提供关于基因组改变的全面而准确的信息,这将为CCA的诊断提供新的潜在生物标志物,并可能指导中国CCA患者的精准治疗策略。