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@ARTICLE{Pouyiourou:303375,
author = {M. Pouyiourou$^*$ and T. Bochtler$^*$ and C. Pauli and H.
Moch and A. Brobeil and K. Pantel and A. Stenzinger and A.
Krämer$^*$},
title = {{R}ethinking cancer of unknown primary: from diagnostic
challenge to targeted treatment.},
journal = {Nature reviews / Clinical oncology},
volume = {nn},
issn = {1759-4774},
address = {New York, NY},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2025-01624},
pages = {nn},
year = {2025},
note = {#EA:A360#LA:A360# / epub},
abstract = {Cancer of unknown primary (CUP) is a metastatic malignancy
for which a primary site of origin cannot be identified
despite a thorough and standardized diagnostic work-up, and
accounts for $1-3\%$ of all malignancies. An unfavourable
subgroup of CUP has a poor prognosis, with a median overall
survival of <1 year when treated with current
standard-of-care platinum-based chemotherapy. Virtually no
progress in elucidating the disease biology and improving
outcomes for patients with unfavourable CUP has been made
over the past several decades, including a failure of
initial randomized clinical trials to demonstrate the
superiority of tissue-of-origin (ToO) identification by
gene-expression profiling and subsequent
primary-site-directed treatment over standard chemotherapy.
However, large-cohort randomized trials have now shown that
molecularly guided therapy improves outcomes for patients
with CUP harbouring an actionable target, both in a
tissue-agnostic as well as a primary tumour site-specific
context. Moreover, data from non-randomized phase II trials
suggest that immunotherapy using immune-checkpoint
inhibitors can be beneficial even in patients with CUP that
has relapsed after, or is refractory to, standard
chemotherapy. In addition, a plethora of refined and novel
strategies, including DNA and RNA sequencing,
DNA-methylation profiling, circulating tumour DNA analysis,
and artificial intelligence-based pathology, have been
leveraged to facilitate ToO identification. In light of
these developments, we review current ToO methodologies and
compare the evidence supporting the use of a primary tumour
site-guided approach versus a histology-agnostic approach to
the management of CUP. We also discuss whether CUP can be
viewed as a model disease for the development of
histology-agnostic precision oncology treatment strategies.},
subtyp = {Review Article},
cin = {A360},
ddc = {610},
cid = {I:(DE-He78)A360-20160331},
pnm = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
pid = {G:(DE-HGF)POF4-311},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40759731},
doi = {10.1038/s41571-025-01060-8},
url = {https://inrepo02.dkfz.de/record/303375},
}