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Stem Cells International
Volume 2012, Article ID 646725, 9 pages
Review Article

Skin-Derived Precursor Cells as an In Vitro Modelling Tool for the Study of Type 1 Neurofibromatosis

1Tissue Engineering Lab, Bioengineering Area, Instituto Biodonostia, Hospital Universitario Donostia, 20014 San Sebastián, Spain
2Department of Dermatology, Hospital Universitario Donostia, 20014 San Sebastián, Spain

Received 14 November 2011; Accepted 18 January 2012

Academic Editor: Mary Familari

Copyright © 2012 Araika Gutiérrez-Rivera et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The most characteristic feature of neurofibromatosis type 1 (NF1) is the development of neurofibromas. It has been suggested that these tumors are caused by somatic inactivation of the wild-type NF1 allele, but the cell that originally suffers this mutation remains controversial. Several lines of evidence support the clonal origin of these tumors, and it has been recently suggested that skin-derived precursor cells (SKPs) could be the cell of origin of dermal neurofibromas. Nullizygous (NF1−/−) SKPs do give rise to neurofibromas when transplanted to heterozygous mice. Moreover, a nullizygous population of cells that is S100β negative is present in human neurofibromas, and NF1+/− multipotent progenitor cells are seemingly recruited to the tumor. This evidence supports the neurofibroma stem cell hypothesis and a putative involvement of SKPs in the aetiopathogenesis of the disease, suggesting that SKPs could become a valuable tool for the in vitro study of NF1.