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@ARTICLE{Goeppert:143591,
author = {B. Goeppert and R. Toth$^*$ and S. Singer and T. Albrecht
and D. B. Lipka$^*$ and P. Lutsik$^*$ and D. Brocks$^*$ and
M. Baehr$^*$ and O. Muecke$^*$ and Y. Assenov$^*$ and L.
Gu$^*$ and V. Endris and A. Stenzinger and A. Mehrabi and P.
Schirmacher$^*$ and C. Plass$^*$ and D. Weichenhan$^*$ and
S. Roessler},
title = {{I}ntegrative {A}nalysis {D}efines {D}istinct {P}rognostic
{S}ubgroups of {I}ntrahepatic {C}holangiocarcinoma.},
journal = {Hepatology},
volume = {69},
number = {5},
issn = {1527-3350},
address = {New York [u.a.]},
publisher = {Wiley Interscience},
reportid = {DKFZ-2019-01171},
pages = {2091 - 2106},
year = {2019},
abstract = {Intrahepatic cholangiocarcinoma (iCCA) is the second most
common primary liver cancer. It is defined by cholangiocytic
differentiation and has poor prognosis. Recently, epigenetic
processes have been shown to play an important role in
cholangiocarcinogenesis. We performed an integrative
analysis on 52 iCCAs using both genetic and epigenetic data
with a specific focus on DNA methylation components. We
found recurrent isocitrate dehydrogenase 1 (IDH1) and IDH2
$(28\%)$ gene mutations, recurrent arm-length copy number
alterations (CNAs), and focal alterations such as deletion
of 3p21 or amplification of 12q15, which affect BRCA1
Associated Protein 1, polybromo 1, and mouse double minute 2
homolog. DNA methylome analysis revealed excessive
hypermethylation of iCCA, affecting primarily the bivalent
genomic regions marked with both active and repressive
histone modifications. Integrative clustering of genetic and
epigenetic data identified four iCCA subgroups with
prognostic relevance further designated as IDH, high (H),
medium (M), and low (L) alteration groups. The IDH group
consisted of all samples with IDH1 or IDH2 mutations and
showed, together with the H group, a highly disrupted
genome, characterized by frequent deletions of chromosome
arms 3p and 6q. Both groups showed excessive
hypermethylation with distinct patterns. The M group showed
intermediate characteristics regarding both genetic and
epigenetic marks, whereas the L group exhibited few
methylation changes and mutations and a lack of CNAs.
Methylation-based latent component analysis of cell-type
composition identified differences among these four groups.
Prognosis of the H and M groups was significantly worse than
that of the L group. Conclusion: Using an integrative
genomic and epigenomic analysis approach, we identified four
major iCCA subgroups with widespread genomic and epigenomic
differences and prognostic implications. Furthermore, our
data suggest differences in the cell-of-origin of the iCCA
subtypes.},
cin = {B370 / L101 / C010},
ddc = {610},
cid = {I:(DE-He78)B370-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)C010-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30615206},
doi = {10.1002/hep.30493},
url = {https://inrepo02.dkfz.de/record/143591},
}