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@ARTICLE{Rausch:302990,
author = {T. Rausch and H. Schäfer and J. Bein and F. Mölder and L.
K. Beeck and B. Kölsch and S. Borchert and V. Benes and T.
Halbsguth and U. Brunnberg and T. Oellerich$^*$ and T.
Tousseyn and M. Ponzoni and J. Köster and M.-L. Hansmann
and R. Küppers$^*$ and S. Hartmann},
title = {{G}enetic lesions in nodular lymphocyte-predominant
{H}odgkin lymphoma and {T} cell/histiocyte-rich large
{B}-cell lymphoma identified by whole genome sequencing.},
journal = {Leukemia},
volume = {39},
number = {9},
issn = {0887-6924},
address = {London},
publisher = {Springer Nature},
reportid = {DKFZ-2025-01437},
pages = {2215-2225},
year = {2025},
note = {2025 Sep;39(9):2215-2225},
abstract = {Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is
a rare malignant lymphoma characterised by a few large
tumour cells expressing B-cell antigens in an inflammatory
background. T-cell/histiocyte-rich large B-cell lymphoma
(THRLBCL) is now considered to be closely related to NLPHL.
Little is known about the mutational spectrum of the
lymphoma cells in primary NLPHL and THRLBCL due to the
rarity of the diseases and the technical challenges of
analysing these tumours. Therefore, the aim of the present
study was to elucidate mechanisms contributing to the
pathogenesis of NLPHL and THRLBCL by whole genome sequencing
of laser microdissected tumour cells from seven cases. We
observed a heterogeneity of transforming events, with cases
showing abundant somatic mutations, others with a
predominance of structural variations, and cases with few
aberrations. The genes that were most frequently affected by
aberrations encode factors influencing JAK-STAT, NF-κB,
and/or WNT signaling, and apoptosis regulators. However, the
mutated genes, such as SOCS3, JUNB, IRF1 and ITPKB, were not
the typical targets known from classical Hodgkin lymphoma
(cHL). Two cases showed recurrent rearrangements of BCL6 and
CD74. In conclusion, our data enrich our understanding of
NLPHL and THRLBCL and highlight common and distinct features
with respect to cHL.},
cin = {FM01 / ED01},
ddc = {610},
cid = {I:(DE-He78)FM01-20160331 / I:(DE-He78)ED01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40670673},
doi = {10.1038/s41375-025-02679-3},
url = {https://inrepo02.dkfz.de/record/302990},
}