Unknown

Dataset Information

0

Comprehensive molecular profiling of extrahepatic cholangiocarcinoma in Chinese population and potential targets for clinical practice.


ABSTRACT: Background:Cholangiocarcinoma (CCA) is a diverse group of malignancies arising from the intra- or extrahepatic biliary epithelium and characterized by its late diagnosis and fatal outcome. Extrahepatic cholangiocarcinoma (ECC) accounts for 90% of CCA. However, little is known about the comprehensive genomic alterations of ECC in Chinese population for providing clinical managements especially targeted therapy. Methods:Comprehensive genomic profiling (CGP) was performed with next generation sequencing panel on paraffin-embedded tumor from a cohort of 80 Chinese ECC patients. Results:The most frequently altered genes were TP53 (68%), KRAS (46%), SMAD4 (22%), ARID1A (20%) and CDKN2A (19%). Mutual exclusivity was observed between multiple genes including ARID1A:TP53, KRAS:LRP1B and NF2:TP53. Genetic alterations with potential therapeutic implications were identified in 43% of patients. The top three actionable alterations include CDKN2A (n=11), BRAF (n=5) and ERBB2 (n=4). Potentially actionable alterations were mainly enriched in the G1-S transition, homologous recombination repair, MAPK/ERK pathway. Conclusions:This is the largest data set of ECC cases providing a comprehensive view on genetic alterations in Chinese population which differs significantly from a US cohort, and indicates the potential clinical implications for targeted therapies.

SUBMITTER: Xue L 

PROVIDER: S-EPMC6943002 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

altmetric image

Publications

Comprehensive molecular profiling of extrahepatic cholangiocarcinoma in Chinese population and potential targets for clinical practice.

Xue Liang L   Guo Chao C   Zhang Kang K   Jiang Hang H   Pang Fei F   Dou Ying Y   Liu Xiaoyan X   Lin Hanqing H   Dong Xiaowei X   Zhao Songhui S   Yao Ming M   Wang Kai K   Feng Yujie Y   Gu Weiguang W  

Hepatobiliary surgery and nutrition 20191201 6


<h4>Background</h4>Cholangiocarcinoma (CCA) is a diverse group of malignancies arising from the intra- or extrahepatic biliary epithelium and characterized by its late diagnosis and fatal outcome. Extrahepatic cholangiocarcinoma (ECC) accounts for 90% of CCA. However, little is known about the comprehensive genomic alterations of ECC in Chinese population for providing clinical managements especially targeted therapy.<h4>Methods</h4>Comprehensive genomic profiling (CGP) was performed with next g  ...[more]

Similar Datasets

| S-EPMC6642361 | biostudies-literature
| S-EPMC10354586 | biostudies-literature
| S-EPMC7336472 | biostudies-literature
| S-EPMC8418904 | biostudies-literature
2020-03-22 | GSE132305 | GEO
| S-EPMC10323903 | biostudies-literature
| PRJNA547577 | ENA
| S-EPMC10652350 | biostudies-literature
| S-EPMC7694193 | biostudies-literature
| S-EPMC8469883 | biostudies-literature