TY  - JOUR
AU  - Perrino, Melissa R
AU  - Jongmans, Marjolijn C J
AU  - Tomlinson, Gail E
AU  - Greer, Mary-Louise C
AU  - Scollon, Sarah R
AU  - Mitchell, Sarah G
AU  - Hansford, Jordan R
AU  - Schultz, Kris Ann P
AU  - Kohlmann, Wendy K
AU  - Kalish, Jennifer M
AU  - MacFarland, Suzanne P
AU  - Das, Anirban
AU  - Maxwell, Kara N
AU  - Pfister, Stefan
AU  - Weksberg, Rosanna
AU  - Michaeli, Orli
AU  - Tabori, Uri
AU  - Ney, Gina M
AU  - Lupo, Philip J
AU  - Brzezinski, Jack J
AU  - Stewart, Douglas R
AU  - Woodward, Emma R
AU  - Kratz, Christian P
TI  - Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.
JO  - Clinical cancer research
VL  - 31
IS  - 8
SN  - 1078-0432
CY  - Philadelphia, Pa. [u.a.]
PB  - AACR
M1  - DKFZ-2025-00527
SP  - 1400-1406
PY  - 2025
N1  - 2025 Apr 14;31(8):1400-1406 / Perspective
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:39937237
DO  - DOI:10.1158/1078-0432.CCR-24-3278
UR  - https://inrepo02.dkfz.de/record/299586
ER  -