Open AccessRNA‐sequencing highlights differential regulated pathways involved in cell cycle and inflammation in orbitofacial neurofibromas
Author(s) -
Imada Eddie Luidy,
Strianese Diego,
Edward Deepak P.,
alThaqib Rawan,
Price Antionette,
Arnold Antje,
AlHussain Hailah,
Marchionni Luigi,
Rodriguez Fausto J.
Publication year - 2022
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.13007
Subject(s) - biology , gene , cancer research , gene expression , malignant transformation , plexiform neurofibroma , inflammation , rna , transcriptome , schwann cell , cell growth , pathology , neurofibroma , microbiology and biotechnology , medicine , neurofibromatosis , genetics , immunology
Although most commonly benign, neurofibromas (NFs) can have devastating functional and cosmetic effects in addition to the possibility of malignant transformation. Orbitofacial NFs, in particular, may cause progressive, disfiguring tumors of the lid, brow, temple, face, and orbit, and clinical evidence suggests that they may have increased local aggressiveness compared to NFs developing at other sites. The purpose of this study was to identify biological differences between orbitofacial NFs and those occurring at other anatomic sites. We performed RNA‐sequencing in orbitofacial (n = 10) and non‐orbitofacial (n = 9) NFs. Differential gene expression analysis demonstrated that a variety of gene sets including genes involved in cell proliferation, interferon, and immune‐related pathways were enriched in orbitofacial NF. Comparisons with publicly available databases of various Schwann cell tumors and malignant peripheral nerve sheath tumor (MPNST) revealed a significant overlap of differentially expressed genes between orbitofacial versus non‐orbitofacial NF and plexiform NF versus MPNST. In summary, we identified gene expression differences between orbitofacial NF and NFs occurring at other locations. Further investigation may be warranted, given that orbitofacial NF are notoriously difficult to treat and associated with disproportionate morbidity.