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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
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