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Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
RNA-sequencing highlights differential regulated pathways involved in cell cycle and inflammation in orbitofacial
Eddie Luidy Imada1, Diego Strianese2,3, Deepak P Edward2,4,5
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.
Abstract:
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.
Insights
Orbitofacial neurofibromas (NFs) show distinct gene expression patterns, particularly in cell proliferation and immune pathways, compared to NFs elsewhere. These findings may explain their aggressive behavior and treatment challenges.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Neurofibromas (NFs) can cause significant disfigurement and functional impairment.
- Orbitofacial NFs may exhibit greater local aggressiveness than NFs at other sites.
- Malignant transformation is a potential risk for neurofibromas.
Purpose of the Study:
- To identify molecular and biological differences between orbitofacial NFs and non-orbitofacial NFs.
- To investigate potential genetic underpinnings for the observed clinical behavior of orbitofacial NFs.
Main Methods:
- RNA-sequencing was performed on 10 orbitofacial NFs and 9 non-orbitofacial NFs.
- Differential gene expression analysis was conducted to compare the two groups.
- Gene expression data were compared with public databases of Schwann cell tumors and MPNST.
Main Results:
- Enrichment of gene sets involved in cell proliferation, interferon, and immune pathways was observed in orbitofacial NFs.
- Significant overlap in differentially expressed genes was found between orbitofacial vs. non-orbitofacial NFs and plexiform NF vs. MPNST.
- Distinct gene expression profiles differentiate orbitofacial NFs from those at other anatomical locations.
Conclusions:
- Orbitofacial neurofibromas possess unique gene expression signatures compared to NFs in other locations.
- These molecular differences may contribute to the increased morbidity and treatment difficulty associated with orbitofacial NFs.
- Further research is warranted to explore therapeutic strategies targeting these molecular distinctions.
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