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@ARTICLE{Benesch:147254,
author = {M. Benesch and K. Nemes and P. Neumayer and M. Hasselblatt
and B. Timmermann and B. Bison and G. Ebetsberger-Dachs and
F. Bourdeaut and C. Dufour and V. Biassoni and A. Morales La
Madrid and N. Entz-Werle and V. Laithier and F. Quehenberger
and S. Weis and D. Sumerauer and R. Siebert and S. Bens and
R. Schneppenheim and M. Kool$^*$ and P. Modena and F.
Fouyssac and M. C Frühwald},
title = {{S}pinal cord atypical teratoid/rhabdoid tumors in
children: {C}linical, genetic, and outcome characteristics
in a representative {E}uropean cohort.},
journal = {Pediatric blood $\&$ cancer},
volume = {67},
number = {1},
issn = {1545-5017},
address = {New York, NY},
publisher = {Wiley},
reportid = {DKFZ-2019-02377},
pages = {e28022},
year = {2020},
note = {2020 Jan;67(1):e28022},
abstract = {Case reports have portrayed spinal cord atypical
teratoid/rhabdoid tumor (spATRT) as an aggressive form of
ATRT. We conducted a retrospective European survey to
collect data on clinical characteristics, molecular biology,
treatment, and outcome of children with intramedullary
spATRT.Scrutinizing a French national series and the
European Rhabdoid Registry database, we identified 13
patients (median age 32 months; metastatic disease at
diagnosis, n = 6). Systemic postoperative chemotherapy was
administered to all patients; three received intrathecal
therapy and six were irradiated (craniospinal, n = 3;
local, n = 3).Median observation time was 8 (range, 1-93)
months. Progression-free and overall survival rates at 1 and
(2 years) were $35.2\%$ ± $13.9\%$ $(26.4\%$ ± $12.9\%)$
and $38.5\%$ ± $13.5\%$ $(23.1\%$ ± $11.7\%).$ Four
patients (ATRT-SHH, n = 2; ATRT-MYC, n = 1; DNA
methylation subgroup not available, n = 1) achieved
complete remission (CR); two of them are alive in CR 69 and
72 months from diagnosis. One patient relapsed after CR and
is alive with progressive disease (PD) and one died of the
disease. Three patients (ATRT-MYC, n = 2; subgroup not
available, n = 1) died after 7 to 22 months due to PD
after having achieved a partial remission (n = 1) or
stabilization (n = 2). Five patients (ATRT-MYC, n = 2;
subgroup not available, n = 3) developed early PD and
died. One patient (ATRT-MYC) died of intracerebral
hemorrhage prior to response evaluation.Long-term survival
is achievable in selected patients with spATRT using
aggressive multimodality treatment. Larger case series and
detailed molecular analyses are needed to understand
differences between spATRT and their inracranial
counterparts and the group of extradural malignant rhabdoid
tumors.},
cin = {B062 / HD01},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:31571386},
doi = {10.1002/pbc.28022},
url = {https://inrepo02.dkfz.de/record/147254},
}