Mass spectrometric insights into the protein composition of human cutaneous neurofibromas: comparison of neurofibromas with the overlying skin
Kallionpää, Roope A; Martikkala, Eija; Haapaniemi, Pekka; Karppinen, Sanna-Maria; Riihilä, Pilvi; Rokka, Anne; Leivo, Ilmo; Pihlajaniemi, Taina; Peltonen, Sirkku; Peltonen, Juha (2025-05-20)
Kallionpää, Roope A
Martikkala, Eija
Haapaniemi, Pekka
Karppinen, Sanna-Maria
Riihilä, Pilvi
Rokka, Anne
Leivo, Ilmo
Pihlajaniemi, Taina
Peltonen, Sirkku
Peltonen, Juha
Springer
20.05.2025
Kallionpää, R.A., Martikkala, E., Haapaniemi, P. et al. Mass spectrometric insights into the protein composition of human cutaneous neurofibromas: comparison of neurofibromas with the overlying skin. Br J Cancer (2025). https://doi.org/10.1038/s41416-025-03055-9
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© The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
https://creativecommons.org/licenses/by/4.0/
© The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
https://creativecommons.org/licenses/by/4.0/
Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi:oulu-202505223831
https://urn.fi/URN:NBN:fi:oulu-202505223831
Tiivistelmä
Abstract
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.
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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