Recent Advances in Neurofibromatosis Type 1: From Molecular Insights to Novel 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: 30 October 2025 | Viewed by 68
Special Issue Editors
2. Department of Internal Medicine, Heim Pal National Pediatric Institute, 1089 Budapest, Hungary
Interests: pediatrics; molecular genetics
Interests: genodermatosis; neurocutaneous syndromes; clinical genetics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Neurofibromatosis type 1 (NF1) is a complex genetic disorder caused by pathogenic variants in the NF1 gene, leading to a wide spectrum of clinical manifestations, including benign and malignant tumors. While research on genotype-phenotype correlations is still limited, recent studies are increasingly focused on understanding these relationships to enhance patient management. Significant progress has been made in targeted therapies, such as MEK inhibitors, which have demonstrated promising results in reducing plexiform neurofibroma volumes in clinical trials. Furthermore, ongoing investigations are exploring the role of mast cells and fibroblasts in the tumor microenvironment, as well as novel agents targeting the Ras/MAPK pathway. Advanced imaging techniques and emerging biomarkers are also improving early diagnosis and monitoring of malignant transformations, such as in malignant peripheral nerve sheath tumors (MPNSTs). This Special Issue aims to highlight the latest scientific discoveries, from molecular research to innovative clinical interventions, to better understand the disease and improve patient outcomes and quality of life. Imaging studies with promising diagnostic approaches are also welcome.
This Special Issue is supervised by Prof. Dr. László Szabó and Dr. Márta Medvecz, and assisted by Dr. Klára Veres (Heim Pál National Pediatric Institute).
Dr. László Szabó
Dr. Márta Medvecz
Guest Editors
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Keywords
- neurofibromatosis type 1
- genotype–phenotype analyses
- molecular pathogenesis
- next-generation sequencing (NGS)
- molecular targeted therapy
- MEK inhibitors
- imaging studies
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