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@ARTICLE{Perrino:299586,
author = {M. R. Perrino and M. C. J. Jongmans and G. E. Tomlinson and
M. C. Greer and S. R. Scollon and S. G. Mitchell and J. R.
Hansford and K. A. P. Schultz and W. K. Kohlmann and J. M.
Kalish and S. P. MacFarland and A. Das and K. N. Maxwell and
S. Pfister$^*$ and R. Weksberg and O. Michaeli and U. Tabori
and G. M. Ney and P. J. Lupo and J. J. Brzezinski and D. R.
Stewart and E. R. Woodward and C. P. Kratz},
title = {{U}pdate on {C}ancer and {C}entral {N}ervous {S}ystem
{T}umor {S}urveillance in {P}ediatric {NF}2-, {SMARCB}1-,
and {LZTR}1-{R}elated {S}chwannomatosis.},
journal = {Clinical cancer research},
volume = {31},
number = {8},
issn = {1078-0432},
address = {Philadelphia, Pa. [u.a.]},
publisher = {AACR},
reportid = {DKFZ-2025-00527},
pages = {1400-1406},
year = {2025},
note = {2025 Apr 14;31(8):1400-1406 / Perspective},
abstract = {Schwannomatoses (SWN) are distinct cancer predisposition
syndromes caused by germline pathogenic variants in the
genes NF2, SMARCB1, or LZTR1. There is significant clinical
overlap between these syndromes with the hallmark of
increased risk for cranial, spinal and peripheral
schwannomas. Neurofibromatosis type 2 was recently renamed
as NF2-related SWN and is the most common SWN syndrome with
increased risk for bilateral vestibular schwannomas,
intradermal schwannomas, meningiomas and less commonly
ependymoma. SMARCB1-related SWN is a familial SWN-syndrome
associated with peripheral and spinal schwannomas and an
increased risk for meningiomas and malignant peripheral
nerve sheath tumors, even in the absence of radiation. These
individuals do not develop bilateral vestibular schwannomas.
Finally, patients with LZTR1-related SWN typically present
with peripheral schwannomas, and unilateral vestibular
schwannomas have been reported. The following perspective is
intended to highlight the clinical presentation and
international tumor surveillance recommendations across
these SWN-syndromes.},
subtyp = {Review Article},
cin = {B062 / HD01},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39937237},
doi = {10.1158/1078-0432.CCR-24-3278},
url = {https://inrepo02.dkfz.de/record/299586},
}