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Project Description

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.

Iris Melanoma

Iris melanoma is a kind of eye cancer originating from the iris, the colored region of the eye. Protheragen focuses on enhancing the diagnostics and therapeutics of iris melanoma. With wide-ranging capabilities and advanced knowledge in preclinical research and tailored services, we have earned the credibility of being a partner in combating this unusual and complex disease.

Introduction to Iris Melanoma

Iris melanoma is a type of uveal melanoma that is the least common, comprising only 2-5%. Unlike choroidal and ciliary body melanomas, iris melanomas are diagnosed at an earlier stage due to their visible location, which results in a more favorable prognosis. The incidence of iris melanoma is low, within the scope of 0.2 to 0.9 cases annually per million people. It is more prevalent in Caucasians, especially those with blue eyes, and usually afflicts people between 45 and 65 years of age. Iris melanomas can present as either circumscribed or diffuse lesions, the latter being associated with worse complications like glaucoma and metastasis.

Schematic diagram of iris map processing for tumor location and extent.

Fig.1 Illustration of the image processing to obtain the iris maps of tumor location and extent. (Krohn J., et al., 2022)

Genetic Mutations in Iris Melanoma

Most important mutations are in GNAQ and GNA11, observed in ~84% of iris melanomas. These neoplasms of the iris contain mutations in G-protein-coupled receptor subunits which activate PKC, MAPK, and YAP signaling axes that promote proliferation and survival of cells. In addition, iris melanomas frequently harbor EIF1AX mutations, which are found in roughly 42% of cases.

Unlike conjunctival and cutaneous melanomas, iris melanomas are infrequent in carrying BRAF or NRAS mutations, which are associated with skin region melanomas. Also, iris melanomas are less common to have BAP1 mutations which are known to have poor prognosis in other types of melanomas in choroidal and ciliary bodies. Iris melanomas may be more favorable than other uveal melanomas due to the absence of BAP1 mutations alongside the presence of EIF1AX mutations.

Therapeutics Development for Iris Melanoma

Targeted Therapies
Research continues on inhibitors of the MAPK and PKC pathways activated by GNAQ and GNA11 mutations due to their potential for treating uveal melanomas, including iris melanomas, where no targeted therapies have been FDA-approved yet.

Immunotherapy
The use of immunotherapy, especially immune checkpoint inhibitors, has been proven effective in the therapeutics of cutaneous melanoma and is currently being researched for application in uveal melanoma. Its application in the case of iris melanoma, however, is still inconclusive at this point.

Our Services

For the diagnostics and therapeutics related to iris melanoma, Protheragen offers a full range of services. We provide precise diagnostics and effective therapeutics development owing to our profound expertise in genetic analysis, preclinical research, and disease model development.

Diagnostics Development

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

Therapeutic Development

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

Disease Models

B16-LS9 Melanoma Cell-Derived Xenograft Models
GNAQ Mutation Models
Chemical, Radiation or Virus-Induced Models

Protheragen's preclinical research services aim to aid the advancement of innovative therapies directed toward iris melanoma. We apply our advanced facilities and specialize in the comprehensive analysis of genetics, as well as in our cell culture and animal model systems, to offer preclinical testing and validation services. If you are interested in our services, please feel free to contact us.

References

Krohn, Jørgen, Kristoffer Våge Sundal, and Torbjørn Frøystein. "Topography and clinical features of iris melanoma." BMC ophthalmology 22 (2022): 1-9.
Khan, Samira, et al. "Clinical and pathologic characteristics of biopsy-proven iris melanoma: a multicenter international study." Archives of Ophthalmology 130.1 (2012): 57-64.