|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
IDH1 and IDH2 mutations were significantly associated with increased levels of p53 in intrahepatic cholangiocarcinomas, but no mutations in the p53 gene were found, suggesting that mutations in IDH1 and IDH2 may cause a stress that leads to p53 activation.
|
22824796 |
2013 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas.
|
24185509 |
2013 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas.
|
24185509 |
2013 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cholangiolar-type intrahepatic cholangiocarcinomas had a higher frequency of IDH1 or 2 mutations than did the bile duct-type intrahepatic cholangiocarcinomas.
|
24406866 |
2014 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, it remains unknown whether IDH1/2 mutations can lead to high levels of 2HG circulating in the blood and whether serum 2HG can be used as a biomarker for IDH1/2 mutational status and tumor burden in intrahepatic cholangiocarcinoma.
|
24478380 |
2014 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
IDH1/2 (p=0.0005) and BAP1 (p=0.0097) mutations were characteristic of ICC, while KRAS (p=0.0019) and TP53 (p=0.0019) were more frequent in ECC and GBC.
|
24867389 |
2014 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
IDH1/2 mutations are associated with prolonged survival in glioma and in ICC, but not in AML.The reason for this is unknown.
|
24880135 |
2014 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Moreover, IDH and Kras mutations, genetic alterations that co-exist in a subset of human IHCCs, cooperate to drive the expansion of liver progenitor cells, development of premalignant biliary lesions, and progression to metastatic IHCC.
|
25043045 |
2014 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
In line with these findings, human ICC with IDH mutations are characterized by a hepatic progenitor cell transcriptional signature suggesting that they are a distinct ICC subtype as compared to IDH wild type tumors.
|
25485496 |
2014 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ICC cases (n=3) showed IDH1 (33.3%) and NRAS (33.3%) mutations.
|
26189129 |
2015 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of the 104 patients with ICC who were evaluated, 30 (28.8%) had an IDH mutation (25.0% IDH1, 3.8% IDH2).
|
26245674 |
2015 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The most frequently mutated genes in EH-PCC were KRAS (47.4 %), TP53 (23.7 %) and ARID1A (15.8 %); in IH-PCC were KRAS (22.2 %), PBRM1 (16.7 %), and PIK3CA (16.7 %); and in ICC were IDH1 (17.1 %), NRAS (17.1 %), and BAP1 (14.3 %).
|
26717940 |
2016 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
IDH1 and IDH2 are homodimeric enzymes that catalyze the conversion of isocitrate to α-ketoglutarate (α-KG) and concomitantly produce reduced NADPH from NADP(+) Mutations in the genes encoding IDH1 and IDH2 have recently been found in a variety of human cancers, most commonly glioma, acute myeloid leukemia (AML), chondrosarcoma, and intrahepatic cholangiocarcinoma.
|
26819452 |
2016 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
IDH mutations define a distinct subtype of ICC, a malignancy that is largely refractory to current therapies.
|
27231123 |
2016 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analyses revealed that KRAS mutation was significantly more frequent in type 1 ICC, whereas IDH mutation and FGFR2 translocation were restricted to type 2 ICC.
|
27259014 |
2016 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemistry using monoclonal antibody MsMab-2 is useful to detect IDH1 R132L in intrahepatic cholangiocarcinoma.
|
27595804 |
2016 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor (FGFR; 11%) and IDH mutations (20%) were mostly limited to IHCCA but appeared to be mutually exclusive.
|
27622582 |
2016 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
IDH mutations were identified more frequently in ICCs with BAP1 loss.
|
27864835 |
2017 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although the IDH1 mutation rate between iCC and HCC demonstrated no significant difference, clear cell HCC revealed statistically increased mutation rate compared to that of HCC without clear cell change (P = 0.009).
|
28403884 |
2017 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
In CHC-SC-CLCs, the mutation rate of isocitrate dehydrogenase 1 (IDH1) or IDH2 was significantly higher (35%) than in MF (4%) or non-MF (0) ICCs (P < .001).
|
28431889 |
2017 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel genomic alterations such as <i>FGFR2</i> fusions and <i>IDH1/2</i> mutations in intrahepatic cholangiocarcinoma (ICC) and <i>ERBB2</i> alterations in gallbladder cancer (GBCA) are emerging as targeted therapy options capable of advancing precision medicine for the care of these patients.
|
28567120 |
2017 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Specificities are observed for some alterations and anatomical subtypes: frequent fibroblast growth factor receptor 2 (FGFR2) and isocitrate dehydrogenase 1/2 (IDH1/2) alterations are specific to intrahepatic cholangiocarcinomas (ICCs), whereas frequent ERBB2 oncogene alterations are specific to extrahepatic cholangiocarcinomas (ECCs) and gallbladder carcinomas (GBCs).
|
28628842 |
2017 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
D-2HG serum level measurement by liquid chromatography coupled to tandem mass spectrometry is a sensitive, specific, precise (a coefficient of variation <10% and an accuracy >95%), fast (9 min run per sample) and inexpensive surrogate marker of IDH1/2 somatic mutation in ICC.
|
29274619 |
2018 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Isocitrate dehydrogenases 1 and 2 (IDH1/2), KRAS protooncogene GTPase (KRAS), a RAS Viral Oncogene Homolog in neoroblastoma (NRAS) and P53 are primary genetic alterations in ICC.
|
29353494 |
2018 |
|
Intrahepatic Cholangiocarcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ARID1A, PBRM1, and IDH1 were frequently mutated in ICC.
|
29408647 |
2018 |