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Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Orbital Neurofibroma

Orbital neurofibroma, one of the parts of the neurofibromatosis spectrum, poses distinct diagnostic and therapeutic difficulties and needs. Protheragen prides itself on an integrated service model, bringing together the latest in diagnostics and therapy development for orbital neurofibromas.

Introduction to Orbital Neurofibroma

Neurofibromas of the orbit are benign peripheral nerve sheath tumors that originate from the Schwann, fibroblast, and other neural tissues within the orbit. Neurofibromas are most frequently linked with Neurofibromatosis Type 1 (NF1), a hereditary syndrome resulting from an anomaly of the NF1 gene located at 17q11.2. Orbital neurofibromas can be localized, diffuse, or form plexiform neurofibromas, the latter being the most troublesome in terms of complexity and infiltration. Plexiform neurofibromas are often multibranched associated with numerous nerve trunks and produce all severe complications like vision obstruction, proptosis, ptosis, and facial disfigurement.

Histopathological Study of Orbital Neurofibroma in the Absence of Neurofibromatosis.

Fig.1 A case study of histopathological analysis of orbital neurofibroma. (Rojas-Correa D., et al., 2021)

The pathogenesis of orbital neurofibromas is primarily the result of the loss of functional neurofibromin, a tumor suppressor protein mapped to the NF1 gene. Neurofibromin modulates the activity of the RAS/MAPK signaling cascade responsible for cell growth and differentiation. In the setting of non-functional neurofibromin, RAS cancer signaling is upregulated, resulting in unregulated cell division and the development of tumors.

Diagnostic Methods of Orbital Neurofibroma

Histopathological Examination
A histopathological inspection is critical to consolidating the diagnosis of orbital neurofibroma. The tumor's neural origin is confirmed by routinely conducting immunohistochemical staining for S-100, vimentin, and CD34. Specific markers enable the identification of mast cells and small vessels in the tumor as well.
Genetic Testing
Genetic screening for NF1 mutations is important when the clinical diagnosis is vague, particularly for outliers with no discernible familial link to NF1. Pathogenic variants detectable through molecular scrutiny can, indeed, make a diagnosis certain and direct management concerning an NF1 mutation further down the line.

Therapeutics Development for Orbital Neurofibroma

Selumetinib and other MEK inhibitors have achieved clinical trial goals by arresting the growth and shrinking the volume of neurofibromatous tumors. These novel agents aim to ameliate the overactive Ras-MAPK signaling cascade secondary to the absence of neurofibromin. Other studies are being done in targeting mTOR and receptor tyrosine kinases, whose functions are responsible for the differential molecular events responsible for tumor formation in NF1. Recently, molecular medicine paved the way in developing more effective therapeutics approaches for NF1 associated tumors.

Our Services

Protheragen's customizable options ensure that whether it's diagnostics, therapeutic development, or comprehensive plans, we provide actionable insights and practical solutions aligned with the latest scientific evidence.

Diagnostics Development

Karyotype Analysis Service
Omics Analysis Service
Biomarker Development Service
Artificial Intelligence Service
Customized Diagnostics Development

Therapeutic Development

Small Molecule Drug
Cell Therapy
Gene Therapy
Therapeutic Antibody
Therapeutic Peptide
Therapeutic Protein
Customized Therapy Development

Disease Models

NF1 Gene Conditional Knockout Models
NF1 Genetically Engineered Swine Models
Spontaneous Large Animal Models
3D Cell Culture Models
Customized Model Development

Protheragen's preclinical research services are designed to accelerate the development of novel therapies for orbital neurofibroma. Our state-of-the-art facilities support a range of preclinical studies, from in vitro cell culture to in vivo animal models. If you are interested in our services, please feel free to contact us.

References

Rojas-Correa, Daniela, et al. "Localized Bilateral Superior and Inferior Orbital Neurofibroma in the Absence of Neurofibromatosis." Case Reports in Ophthalmological Medicine 2021.1 (2021): 6655134.
Wy, Seoyoung, and Namju Kim. "Orbital malignant peripheral nerve sheath tumor arising from neurofibroma." Korean Journal of Ophthalmology 33.3 (2019): 301-302.