Conjunctival Melanomas
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Conjunctival Melanomas

Conjunctival melanoma (CoM) is a highly aggressive ocular malignancy that originates from the melanocytes of the conjunctiva. Protheragen offers comprehensive diagnostics and therapeutics development services for conjunctival melanoma. Our services include advanced molecular diagnostics, biomarker discovery, and the development of targeted therapies and immunotherapies.

Overview of Conjunctival Melanomas

Conjunctival melanoma (CoM) is a rare but aggressive ocular surface malignancy caused by malignancy of the melanocytes situated in the conjunctiva. It comprises an estimated 2% of all ocular malignancies and 5-7% of all melanomas. CoM, though uncommon, presents significant challenges due to its likelihood of local recurrence, metastasis, and lower prognosis. The tumor usually manifests as a pigmented and non-pigmented lesion in the bulbar conjunctiva, often accompanied by redness, irritation, or a mass.

Schematic representation of the area of the conjunctiva affected by melanoma.Fig.1 Regions of the conjunctiva affected by melanoma. (Chang E., et al., 2023)

Diagnostic Methods for Conjunctival Melanomas

Genetic and Molecular Diagnostics

The diagnosis of CoM relies heavily on mutations identified via genetic testing, which is the starting point for all and sundry at CoM. Molecular characterization of CoM tumours is done through next-generation sequencing (NGS), which captures BRAF, NRAS, and TERT mutations.

Immunohistochemistry (IHC)

Markers that are routinely used to substantiate the diagnosis of CoM include S-100, HMB-45, and Melan-A. In addition, IHC can also be used for evaluating the expression of immune checkpoint molecules which can provide insight on the effectiveness of immunotherapy.

Therapeutics Development for Conjunctival Melanomas

  • Targeted Therapies
    Targeted therapies seem to hold promise for CoM therapeutics by utilizing the genetic alterations that enhance tumorigenesis. Vemurafenib and dabrafenib BRAF inhibitors, for example, have been noted to be particularly efficacious among the cases suffering from BRAF-mutant CoM. These targeted agents block the functional activities of mutant BRAF proteins, thus impeding the oncogenic signaling pathways.
  • Immunotherapy
    Immunotherapy represents previously unattained therapeutic options for CoM by leveraging the tumor's immunological aspects. Checkpoint inhibitors such as pembrolizumab (anti-PD-1) and ipilimumab (anti-CTLA-4) have had good clinical trial results. These drugs have a mechanism of action that involves blockage of immune checkpoint inhibitory signals, which facilitates the anti-tumor immune response.

Table 1. Therapeutics of conjunctival melanomas.

Therapeutics Description Target Research Stage
Vemurafenib BRAF inhibitors are used to treat melanomas with BRAF V600E mutations. Reduces tumor growth and spread. BRAF V600E mutation Approved
Dabrafenib BRAF inhibitors are often combined with trametinib for enhanced efficacy in BRAF-mutated melanomas. BRAF V600E/K mutations Approved
Trametinib MEK inhibitors are used in combination with BRAF inhibitors to block the MAPK pathway in melanoma. MEK1/MEK2 Approved
Imatinib KIT inhibitors are used in cases of conjunctival melanoma with KIT mutations. KIT mutation Clinical Trials

Disclaimer: Protheragen focuses on providing preclinical research service. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen offers comprehensive therapeutics development and preclinical research services tailored to the unique challenges of CoM. Our services encompass genetic and molecular diagnostics and immunohistochemical analysis. By leveraging state-of-the-art technologies, we provide robust preclinical data to inform the development of novel diagnostics and therapeutics.

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

Preclinical Research

  • Pharmacodynamics Study Services
  • Pharmacokinetics Study Services
  • Drug Safety Evaluation Services

Disease Models

  • Spontaneous Epibulbar Dermoid Canine Models
  • PTCH1 Mutation Rodent Models
  • Dermoid Tissue Implantation Rabbit Models
  • Genetic Engineering Non-Human Primate Models

Protheragen offers customized in vitro and in vivo model development services to support conjunctival melanoma research. Our in vitro services include 2D and 3D cell culture models, organoid cultures, and co-culture systems to mimic the tumor microenvironment. For in vivo studies, we provide xenograft, syngeneic, and GEMMs tailored to specific research needs. Our models are validated for reproducibility and relevance to human disease, ensuring reliable preclinical data. If you are interested in our services, please feel free to contact us.

References

  • Chang, Emily, Hakan Demirci, and F. Yesim Demirci. "Genetic Aspects of Conjunctival Melanoma: A Review." Genes 14.9 (2023): 1668.
  • Mikkelsen, Lauge Hjorth. Molecular biology in conjunctival melanoma and the relationship to mucosal melanoma. Diss. 2020.
  • Brouwer, Niels J., et al. "Conjunctival melanoma: New insights in tumor genetics and immunology, leading to new therapeutic options." Progress in Retinal and Eye Research 86 (2022): 100971.