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肝内胆管癌基因突变的分子特征及预后价值:一项基因组数据库分析

Molecular Profile and Prognostic Value of Mutations in Intrahepatic Cholangiocarcinoma: A Genomic Database Analysis.

作者信息

Rizzo Alessandro, Carloni Riccardo, Ricci Angela Dalia, Di Federico Alessandro, Guven Deniz Can, Yalcin Suayib, Brandi Giovanni

机构信息

Struttura Semplice Dipartimentale di Oncologia Medica per la Presa in Carico Globale del Paziente Oncologico "Don Tonino Bello", I.R.C.C.S. Istituto Tumori "Giovanni Paolo II", Viale Orazio Flacco 65, 70124 Bari, Italy.

Department of Specialized, Experimental and Diagnostic Medicine, University of Bologna, Via Giuseppe Massarenti, 9, 40138 Bologna, Italy.

出版信息

J Pers Med. 2022 Jul 29;12(8):1247. doi: 10.3390/jpm12081247.

Abstract

BACKGROUND

Recent years have witnessed the advent of molecular profiling for intrahepatic cholangiocarcinoma (iCCA), and new techniques have led to the identification of several molecular alterations. Precision oncology approaches have been widely evaluated and are currently under assessment, as shown by the recent development of a wide range of agents targeting Fibroblast Growth Factor Receptor (FGFR) 2, Isocitrate Dehydrogenase 1 (IDH-1), and BRAF. However, several knowledge gaps persist in the understanding of the genomic landscape of this hepatobiliary malignancy.

METHODS

In the current study, we aimed to comprehensively analyze clinicopathological features of -mutated iCCA patients in public datasets to increase the current knowledge on the molecular and biological profile of iCCA.

RESULTS

The current database study, including 772 iCCAs, identified mutations in 120 cases (15.7%). According to our analysis, no differences in terms of overall survival and relapse-free survival were observed between -mutated and wild-type patients receiving radical surgery. In addition, IDH1, PBRM1, and ARID1A mutations were the most commonly co-altered genes in -mutated iCCAs.

CONCLUSIONS

The genomic characterization of iCCA is destined to become increasingly important, and more efforts aimed to implement iCCA genomics analysis are warranted.

摘要

背景

近年来,肝内胆管癌(iCCA)的分子谱分析技术问世,新技术已导致多种分子改变被识别。精准肿瘤学方法已得到广泛评估且目前仍在评估中,多种靶向成纤维细胞生长因子受体(FGFR)2、异柠檬酸脱氢酶1(IDH - 1)和BRAF的药物的近期研发就表明了这一点。然而,在理解这种肝胆恶性肿瘤的基因组格局方面仍存在一些知识空白。

方法

在本研究中,我们旨在全面分析公共数据集中iCCA突变患者的临床病理特征,以增加目前对iCCA分子和生物学特征的认识。

结果

当前的数据库研究纳入了772例iCCA病例,其中120例(15.7%)检测到突变。根据我们的分析,接受根治性手术的突变型和野生型患者在总生存期和无复发生存期方面未观察到差异。此外,IDH1、PBRM1和ARID1A突变是iCCA突变病例中最常见的共同改变基因。

结论

iCCA的基因组特征注定会变得越来越重要,因此有必要做出更多努力来开展iCCA基因组学分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a731/9410256/0f34d6454ecf/jpm-12-01247-g001.jpg

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