Journal Article (Review Article)

DKFZ-2025-00527

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.

Perrino, M. R. ; Jongmans, M. C. J. ; Tomlinson, G. E. ; Greer, M. C. ; Scollon, S. R. ; Mitchell, S. G. ; Hansford, J. R. ; Schultz, K. A. P. ; Kohlmann, W. K. ; Kalish, J. M. ; MacFarland, S. P. ; Das, A. ; Maxwell, K. N. ; Pfister, S.DKFZ* ; Weksberg, R. ; Michaeli, O. ; Tabori, U. ; Ney, G. M. ; Lupo, P. J. ; Brzezinski, J. J. ; Stewart, D. R. ; Woodward, E. R. ; Kratz, C. P.

2025
AACR Philadelphia, Pa. [u.a.]

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Please use a persistent id in citations: doi:10.1158/1078-0432.CCR-24-3278

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.

Note: 2025 Apr 14;31(8):1400-1406 / Perspective

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2025

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Essential Science Indicators ; IF >= 10 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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