Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis

Authors

Melissa R Perrino
Marjolijn C J Jongmans
Gail E Tomlinson
Mary-Louise C Greer
Sarah R Scollon
Sarah G Mitchell
Jordan R Hansford
Kris Ann P Schultz
Wendy K Kohlmann
Jennifer M Kalish
Suzanne P MacFarland
Anirban Das
Kara N Maxwell
Stefan M Pfister
Rosanna Weksberg
Orli Michaeli
Uri Tabori
Gina M Ney
Philip J Lupo
Jack J Brzezinski
Douglas R Stewart
Emma R Woodward
Christian P Kratz

Language

English

Publication Date

4-14-2025

Journal

Clinical Cancer Research

DOI

10.1158/1078-0432.CCR-24-3278

PMID

39937237

PMCID

PMC12002630

PubMedCentral® Posted Date

10-14-2025

PubMedCentral® Full Text Version

Author MSS

Abstract

Schwannomatosis (SWN) is a distinct cancer predisposition syndrome caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is a 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.

Keywords

Child, Humans, Central Nervous System Neoplasms, Genetic Predisposition to Disease, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 2, Neurofibromin 2, Skin Neoplasms, SMARCB1 Protein, Transcription Factors, Neurofibromatosis Type 2, NF2-SWN, Schwannomatosis, LZTR1, SMARCB1, pediatric cancer

Published Open-Access

yes

Recommended Citation

Perrino, Melissa R; Jongmans, Marjolijn C J; Tomlinson, Gail E; et al., "Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis" (2025). Faculty and Staff Publications. 5195.
https://digitalcommons.library.tmc.edu/baylor_docs/5195