Neurofibromatosis Type 1 and NF2-Related Schwannomatosis: Advances from Basic Research to Current Therapies
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: 31 July 2026 | Viewed by 1593
Special Issue Editors
Interests: Hutchinson–Gilford Progeria syndrome; anti-aging process; laminopathies; antitumor process
Special Issues, Collections and Topics in MDPI journals
Interests: NF2; NF2-related schwannomatosis; Merlin; YAP; Yes-associated protein 1; RKIP; Raf kinase inhibitory protein; PPI; protein–protein interaction
Special Issue Information
Dear Colleagues,
Neurofibromatosis type 1 (NF1) and NF2-related schwannomatosis are rare genetic tumor predisposition syndromes characterized by multiple benign and occasionally malignant tumors of the nervous system. NF1 is caused by pathogenic variants in the NF1 gene encoding neurofibromin, leading to dysregulated RAS/MAPK signaling, while NF2-related schwannomatosis results from NF2 gene mutations affecting the tumor suppressor merlin. These disorders present with diverse clinical features, including cutaneous neurofibromas, plexiform neurofibromas, vestibular schwannomas, meningiomas, and ependymomas, often causing neurological deficits and reduced quality of life. Although recent advances, such as MEK inhibitors for NF1-related plexiform neurofibromas and bevacizumab for NF2-related vestibular schwannomas, have improved management, curative therapies remain elusive. This Special Issue will cover recent progress from basic molecular mechanisms to translational and clinical studies, including novel therapeutic strategies, preclinical models, biomarker discovery, surgical and nonsurgical interventions, genotype–phenotype correlations, and the development of targeted drugs. Our aim is to foster a deeper understanding and improved treatment of these challenging disorders.
Prof. Dr. Bumjoon Park
Dr. Baehoon Kim
Guest Editors
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Keywords
- neurofibromatosis type 1 (NF1)
- neurofibromin
- RAS/MAPK pathway
- malignant peripheral nerve sheath tumor (MPNST)
- NF2-related schwannomatosis (NF2 syndrome)
- Merlin (Schwannomin)
- vestibular schwannoma
- meningioma
- ependymoma
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