Identification of the role of polydom in neurofibromas

Dermal neurofibromas in von Recklinghausen's disease (vRD) develop in the dermis. Therefore, we hypothesized that a dermal niche exists that promotes the development of dermal neurofibromas in subjects with vRD. We focused on polydom, a ligand for integrin a9ß1 and known as a factor expressed in the nerve tissue of mice and human breast cancer and lung cancer, which is expressed around nerve tissue. There were fewer polydom-positive fibroblasts in dermal tissue surrounding neurofibromas than in the dermis of normal skin. However, the expression level of polydom mRNA was significantly higher in neurofibroma tissue than control tissue. In addition, quantitative reverse transcription-polymerase chain reaction (qRT-PCR) analysis of RNA purified from primary cultured dermal neurofibroma cells demonstrated that polydom mRNA expression was significantly higher in cells derived from the matrix of raised-type neurofibromas compared to normal human dermal fibroblasts. To investigate the role of polydom, RNA sequencing was used to compare the gene expression between cultured cells derived from dermal neurofibroma surrounding tissue with and without polydom knockdown. Overall design: We performed an RNA sequencing used to compare the gene expression between cultured cells derived from dermal neurofibroma surrounding tissue with and without polydom knockdown in triplicates.