Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report
Intrahepatic mucinous cholangiocarcinoma (IMCC) is a rare subtype of intrahepatic cholangiocarcinoma (IHCC). Limited data describe the genetic characteristics of IMCC and insights on its pathogenesis are lacking. Here, we employed a multi-omics approach to analyze somatic mutations, transcriptome, p...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-07-01
|
| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1175707/full |
| _version_ | 1797774965328576512 |
|---|---|
| author | Xiaokang Zeng Huohui Ou Chong Zeng Qingbo Liu Weidong Wang Jie Yao Jie Yao |
| author_facet | Xiaokang Zeng Huohui Ou Chong Zeng Qingbo Liu Weidong Wang Jie Yao Jie Yao |
| author_sort | Xiaokang Zeng |
| collection | DOAJ |
| description | Intrahepatic mucinous cholangiocarcinoma (IMCC) is a rare subtype of intrahepatic cholangiocarcinoma (IHCC). Limited data describe the genetic characteristics of IMCC and insights on its pathogenesis are lacking. Here, we employed a multi-omics approach to analyze somatic mutations, transcriptome, proteome and metabolome of tumor tissue obtained from a case of IMCC in order to clarify the pathogenesis of IMCC. A total of 54 somatic mutations were detected, including a G12D mutation in KRAS that is likely to be involved in the onset of IMCC. The genes consistently up-regulated at the transcription level and in the proteome were enriched for mucin and mucopolysaccharide biosynthesis, for cell cycle functions and for inflammatory signaling pathways. The consistently down-regulated genes were enriched in bile synthesis and fatty acid metabolism pathways. Further multi-omics analysis found that mucin synthesis by MUC4 and MUC16 was elevated by up-regulated expression of mesothelin (MSLN). Moreover, transcription factor ONECUT3 was identified that possibly activates the transcription of mucin and mucopolysaccharide biosynthesis in IMCC. |
| first_indexed | 2024-03-12T22:28:53Z |
| format | Article |
| id | doaj.art-918a70fcb72a41db8cf06b1c24d44a30 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-03-12T22:28:53Z |
| publishDate | 2023-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-918a70fcb72a41db8cf06b1c24d44a302023-07-21T19:00:04ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-07-011310.3389/fonc.2023.11757071175707Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case reportXiaokang Zeng0Huohui Ou1Chong Zeng2Qingbo Liu3Weidong Wang4Jie Yao5Jie Yao6Medical Research Center, Shunde Hospital, Southern Medical University, Foshan, ChinaDepartment of Hepatobiliary Surgery, Shunde Hospital, Southern Medical University, Foshan, ChinaMedical Research Center, Shunde Hospital, Southern Medical University, Foshan, ChinaDepartment of Hepatobiliary Surgery, Shunde Hospital, Southern Medical University, Foshan, ChinaDepartment of Hepatobiliary Surgery, Shunde Hospital, Southern Medical University, Foshan, ChinaMedical Research Center, Shunde Hospital, Southern Medical University, Foshan, ChinaDepartment of Laboratory Medicine, Shunde Hospital, Southern Medical University, Foshan, ChinaIntrahepatic mucinous cholangiocarcinoma (IMCC) is a rare subtype of intrahepatic cholangiocarcinoma (IHCC). Limited data describe the genetic characteristics of IMCC and insights on its pathogenesis are lacking. Here, we employed a multi-omics approach to analyze somatic mutations, transcriptome, proteome and metabolome of tumor tissue obtained from a case of IMCC in order to clarify the pathogenesis of IMCC. A total of 54 somatic mutations were detected, including a G12D mutation in KRAS that is likely to be involved in the onset of IMCC. The genes consistently up-regulated at the transcription level and in the proteome were enriched for mucin and mucopolysaccharide biosynthesis, for cell cycle functions and for inflammatory signaling pathways. The consistently down-regulated genes were enriched in bile synthesis and fatty acid metabolism pathways. Further multi-omics analysis found that mucin synthesis by MUC4 and MUC16 was elevated by up-regulated expression of mesothelin (MSLN). Moreover, transcription factor ONECUT3 was identified that possibly activates the transcription of mucin and mucopolysaccharide biosynthesis in IMCC.https://www.frontiersin.org/articles/10.3389/fonc.2023.1175707/fullintrahepatic mucinous cholangiocarcinomaintrahepatic cholangiocarcinomawhole exome sequencingdifferentially expressed genesmucin |
| spellingShingle | Xiaokang Zeng Huohui Ou Chong Zeng Qingbo Liu Weidong Wang Jie Yao Jie Yao Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report Frontiers in Oncology intrahepatic mucinous cholangiocarcinoma intrahepatic cholangiocarcinoma whole exome sequencing differentially expressed genes mucin |
| title | Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report |
| title_full | Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report |
| title_fullStr | Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report |
| title_full_unstemmed | Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report |
| title_short | Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report |
| title_sort | multi omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma a case report |
| topic | intrahepatic mucinous cholangiocarcinoma intrahepatic cholangiocarcinoma whole exome sequencing differentially expressed genes mucin |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1175707/full |
| work_keys_str_mv | AT xiaokangzeng multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport AT huohuiou multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport AT chongzeng multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport AT qingboliu multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport AT weidongwang multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport AT jieyao multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport AT jieyao multiomicsintegratedanalyzedtheoriginofintrahepaticmucinouscholangiocarcinomaacasereport |