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@ARTICLE{Liu:177206,
author = {A. P. Y. Liu and K. S. Smith and R. Kumar and L. Paul and
L. Bihannic and T. Lin and K. K. Maass$^*$ and K. W.
Pajtler$^*$ and M. Chintagumpala and J. M. Su and E. Bouffet
and M. J. Fisher and S. Gururangan and R. Cohn and T.
Hassall and J. R. Hansford and P. Klimo and F. A. Boop and
C. F. Stewart and J. H. Harreld and T. E. Merchant and R. G.
Tatevossian and G. Neale and M. Lear and J. M. Klco and B.
A. Orr and D. W. Ellison and R. J. Gilbertson and A.
Onar-Thomas and A. Gajjar and G. W. Robinson and P. A.
Northcott},
title = {{S}erial assessment of measurable residual disease in
medulloblastoma liquid biopsies.},
journal = {Cancer cell},
volume = {39},
number = {11},
issn = {1535-6108},
address = {New York, NY},
publisher = {Elsevier},
reportid = {DKFZ-2021-02340},
pages = {1519-1530.e4},
year = {2021},
note = {2021 Nov 8;39(11):1519-1530.e4},
abstract = {Nearly one-third of children with medulloblastoma, a
malignant embryonal tumor of the cerebellum, succumb to
their disease. Conventional response monitoring by imaging
and cerebrospinal fluid (CSF) cytology remains challenging,
and a marker for measurable residual disease (MRD) is
lacking. Here, we show the clinical utility of CSF-derived
cell-free DNA (cfDNA) as a biomarker of MRD in serial
samples collected from children with medulloblastoma (123
patients, 476 samples) enrolled on a prospective trial.
Using low-coverage whole-genome sequencing, tumor-associated
copy-number variations in CSF-derived cfDNA are investigated
as an MRD surrogate. MRD is detected at baseline in $85\%$
and $54\%$ of patients with metastatic and localized
disease, respectively. The number of MRD-positive patients
declines with therapy, yet those with persistent MRD have
significantly higher risk of progression. Importantly, MRD
detection precedes radiographic progression in half who
relapse. Our findings advocate for the prospective
assessment of CSF-derived liquid biopsies in future trials
for medulloblastoma.},
keywords = {biomarkers (Other) / cell-free DNA (Other) / cerebrospinal
fluid (Other) / childhood cancer (Other) / liquid biopsy
(Other) / measurable residual disease (Other) /
medulloblastoma (Other) / microscopic residual disease
(Other) / minimal residual disease (Other) / relapse disease
(Other)},
cin = {B062},
ddc = {610},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:34678152},
doi = {10.1016/j.ccell.2021.09.012},
url = {https://inrepo02.dkfz.de/record/177206},
}