RGD Reference Report - Comprehensive analysis of genomic alterations of Chinese hilar cholangiocarcinoma patients. - Rat Genome Database

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Comprehensive analysis of genomic alterations of Chinese hilar cholangiocarcinoma patients.

Authors: Feng, Feiling  Wu, Xiaobing  Shi, Xiaoliang  Gao, Qingxiang  Wu, Yue  Yu, Yong  Cheng, Qingbao  Li, Bin  Yi, Bin  Liu, Chen  Hao, Qing  Zhang, Lin  Gao, Chunfang  Jiang, Xiaoqing 
Citation: Feng F, etal., Int J Clin Oncol. 2021 Apr;26(4):717-727. doi: 10.1007/s10147-020-01846-z. Epub 2021 Jan 2.
RGD ID: 126848756
Pubmed: PMID:33387086   (View Abstract at PubMed)
DOI: DOI:10.1007/s10147-020-01846-z   (Journal Full-text)


BACKGROUND: Cholangiocarcinoma (CCA) is a rare malignant tumor of the biliary system. The heterogeneity of CCA leads to the lack of effective targeted treatment for CCA subtypes. The molecular characteristic of hilar CCA (hCCA) is still unclear.
METHODS: A total of 63 hCCA patients were enrolled from Shanghai Eastern Hepatobiliary Surgery Hospital. Formalin-fixed, paraffin-embedded tumor tissues, and matched blood were collected and deep sequencing targeting 450 cancer genes were performed. Tumor mutation burden (TMB) was measured by an algorithm developed in-house. Correlation analysis was performed by Fisher's exact test.
RESULTS: The most commonly mutated genes were TP53 (51.7%), NF1 and KRAS (20%, for both), SMAD4 (16.7%), FAT3 and FRS2 (13.3%, for both), NF1 (11.7%), and KMT2C, MDM2, and ATM (10%, for each) in hCCA. ARID1A, GATA6, and PREX2 mutations commonly occurred in female and KMT2C mutations mainly occurred in patients under 60 years old. Statistical analysis showed the association between ARID1A mutation and tumor stage (P = 0.041) and between NF1 mutation and high TMB (P = 0.0095). Furthermore, ARID1B mutation was identified to associate with the poor prognosis of Chinese hCCA patients (P = 0.004).
CONCLUSION: The mutational characterization of hCCA is different from both extrahepatic CCA and intrahepatic CCA. ARID1B is a potential biomarker for prognosis prediction of Chinese hCCA patients.



Disease Annotations    Click to see Annotation Detail View
RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ARID1AHumanKlatskin's tumor disease_progressionIAGP DNA:deletionsRGD 
Arid1aRatKlatskin's tumor disease_progressionISOARID1A (Homo sapiens)DNA:deletionsRGD 
Arid1aMouseKlatskin's tumor disease_progressionISOARID1A (Homo sapiens)DNA:deletionsRGD 
GATA6HumanKlatskin's tumor sexual_dimorphismIAGP DNA:mutationsRGD 
Gata6RatKlatskin's tumor sexual_dimorphismISOGATA6 (Homo sapiens)DNA:mutationsRGD 
Gata6MouseKlatskin's tumor sexual_dimorphismISOGATA6 (Homo sapiens)DNA:mutationsRGD 
KMT2CHumanKlatskin's tumor onsetIAGP DNA:mutationsRGD 
KRASHumanKlatskin's tumor disease_progressionIAGP DNA:mutationsRGD 
Kmt2cRatKlatskin's tumor onsetISOKMT2C (Homo sapiens)DNA:mutationsRGD 
Kmt2cMouseKlatskin's tumor onsetISOKMT2C (Homo sapiens)DNA:mutationsRGD 
KrasRatKlatskin's tumor disease_progressionISOKRAS (Homo sapiens)DNA:mutationsRGD 
KrasMouseKlatskin's tumor disease_progressionISOKRAS (Homo sapiens)DNA:mutationsRGD 
PREX2HumanKlatskin's tumor sexual_dimorphismIAGP DNA:substitutions, insertion/deletions: (human)RGD 
Prex2RatKlatskin's tumor  ISOPREX2 (Homo sapiens)DNA:substitutions, insertion/deletions: (human)RGD 
Prex2MouseKlatskin's tumor  ISOPREX2 (Homo sapiens)DNA:substitutions, insertion/deletions: (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Arid1a  (AT-rich interaction domain 1A)
Gata6  (GATA binding protein 6)
Kmt2c  (lysine methyltransferase 2C)
Kras  (KRAS proto-oncogene, GTPase)
Prex2  (phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2)

Genes (Mus musculus)
Arid1a  (AT-rich interaction domain 1A)
Gata6  (GATA binding protein 6)
Kmt2c  (lysine (K)-specific methyltransferase 2C)
Kras  (Kirsten rat sarcoma viral oncogene homolog)
Prex2  (phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2)

Genes (Homo sapiens)
ARID1A  (AT-rich interaction domain 1A)
GATA6  (GATA binding protein 6)
KMT2C  (lysine methyltransferase 2C)
KRAS  (KRAS proto-oncogene, GTPase)
PREX2  (phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2)


Additional Information