A1 Refereed original research article in a scientific journal
Mass spectrometric insights into the protein composition of human cutaneous neurofibromas: comparison of neurofibromas with the overlying skin.
Authors: Kallionpää, Roope A.; Martikkala, Eija; Haapaniemi, Pekka; Karppinen, Sanna-Maria; Riihilä, Pilvi; Rokka, Anne; Leivo, Ilmo; Pihlajaniemi, Taina; Peltonen, Sirkku; Peltonen, Juha
Publisher: SPRINGER NATURE
Publication year: 2025
Journal: British Journal of Cancer
Journal name in source: British Journal of Cancer
ISSN: 0007-0920
eISSN: 1532-1827
DOI: https://doi.org/10.1038/s41416-025-03055-9
Web address : https://doi.org/10.1038/s41416-025-03055-9
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/492086358
Background: Cutaneous neurofibromas (cNFs) are the hallmark of the tumor-predisposition syndrome neurofibromatosis 1 (NF1). While cNFs are always benign, they markedly decrease quality of life in individuals with NF1. Understanding the differences between cNFs and the skin is essential for developing treatments for cNFs.
Methods: We collected 15 cNFs from four NF1 individuals and used mass spectrometry to compare the tumor tissue with the skin overlying each tumor. Data were analyzed based on Gene Ontology (GO) terms.
Results: The expression patterns of the Schwann cell marker S100B and several keratins confirmed successful dissection of cNF tissue from the overlying skin. Hierarchical clustering showed extensive overlap between the tumor and skin samples in three out of four individuals, suggesting high overall similarity between the two tissue types. Based on the analysis of the GO terms, cNFs were associated with decreased expression of proteins related to cell proliferation, extracellular matrix remodeling, angiogenesis and cellular metabolism.
Conclusion: The cNFs are relatively quiescent, consistent with their benign nature and limited growth potential. The development of pharmacological therapy for cNFs requires overcoming the high similarity between cNFs and the overlying skin. The present dataset can serve as a resource for future research on cNFs.
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Funding information in the publication:
This publication was supported by a Subagreement from the Johns Hopkins University via the Neurofibromatosis Therapeutic Acceleration Program (NTAP) with funds provided by Grant Agreement from the Bloomberg Family Foundation. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the Bloomberg Family Foundation or the Johns Hopkins University. RAK is funded by the Children’s Tumor Foundation Young Investigator Award (Award ID: 2023-01-006; https://doi.org/10.48105/CTF.CTF-2023-01-006.pc.gr.172004). The study has also received funding from Cancer Foundation Finland and from Sigrid Jusélius Foundation. Open Access funding provided by University of Turku (including Turku University Central Hospital).
