Page 16 - Read Online
P. 16
Page 12 of 15 Brown. Rare Dis Orphan Drugs J. 2025;4:21 https://dx.doi.org/10.20517/rdodj.2025.14
subsidizing and regulating training courses for tumor removal in clinical settings. The ECM represents a
previously untargeted component of CNs and may also play a role in larger tumors and malignancies
associated with NF1. Focusing on drug delivery at the cellular level will be key to understanding why some
pharmacotherapies fail, even when bulk tumor concentrations appear sufficient to elicit a predicted
response.
DECLARATIONS
Authors’ contributions
The author contributed solely to the article.
Availability of data and materials
Not applicable.
Financial support and sponsorship
None.
Conflicts of interest
Brown RM, MD, PhD, is a paid scientific advisor to Pasithea Therapeutics, which is developing a novel
MEK inhibitor PAS-004.
Ethical approval and consent to participate
Not applicable.
Consent for publication
Written informed consent for publication of the clinical images was obtained from the patients.
Copyright
© The Author(s) 2025.
REFERENCES
1. Brown R. Management of central and peripheral nervous system tumors in patients with neurofibromatosis. Curr Oncol Rep.
2023;25:1409-17. DOI PubMed
2. Lalvani S, Brown RM. Neurofibromatosis type 1: optimizing management with a multidisciplinary approach. J Multidiscip Healthc.
2024;17:1803-17. DOI PubMed PMC
3. Ortonne N, Wolkenstein P, Blakeley JO, et al. Cutaneous neurofibromas: current clinical and pathologic issues. Neurology.
2018;91:S5-S13. DOI
4. Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P. Impact of neurofibromatosis 1 on quality of life: a cross-sectional
study of 176 American cases. Am J Med Genet A. 2006;140:1893-8. DOI PubMed
5. Wolkenstein P, Zeller J, Revuz J, Ecosse E, Leplège A. Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study
of 128 cases. Arch Dermatol. 2001;137:1421-5. DOI PubMed
6. Wang J, Fu J, Zhou Y, Gao D, Qing J, Yang G. Global research trends in cutaneous neurofibromas: a bibliometric analysis from 2003
to 2022. Skin Res Technol. 2024;30:e13595. DOI PubMed PMC
7. Friedrich RE, Holstein AF, Middendorff R, Davidoff MS. Vascular wall cells contribute to tumourigenesis in cutaneous neurofibromas
of patients with neurofibromatosis type 1. A comparative histological, ultrastructural and immunohistochemical study. Anticancer Res.
2012;32:2139-58. PubMed
8. Kallionpää RA, Ahramo K, Martikkala E, et al. Mast cells in human cutaneous neurofibromas: density, subtypes, and association with
clinical features in neurofibromatosis 1. Dermatology. 2022;238:329-39. DOI
9. Kallionpää RA, Peltonen S, Le KM, et al. Characterization of immune cell populations of cutaneous neurofibromas in
neurofibromatosis 1. Lab Invest. 2024;104:100285. DOI
10. Church C, Fay CX, Kriukov E, et al. snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates
role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response. Acta Neuropathol Commun.
2024;12:102. DOI PubMed PMC

