Uveal melanoma

Uveal melanoma is the most common malignant tumor of the eye, with an incidence of 6 cases per 1,000,000 people per year. The risk of developing this cancer increases with age, peaking between 60 and 70 years. Familial cases are rare.

About half of the patients develop metastases, which lead to death within months. Uveal melanoma can be divided into 2 classes, associated with metastatic progression and prognosis. The key factor for UM classification is the status of chromosome 3 of the tumor cells:

• Favorable prognosis: If both copies of chromosome 3 are retained (disomy 3), the tumor rarely metastasizes.
• Unfavorable prognosis: If one copy of chromosome 3 is lost  (monosomy 3), the tumor is much more likely to metastasize.

Additional genetic alterations in the tumor are associated with the UM classes and disease progression.  Tumors with a good prognosis often have mutations in the SF3B1 or EIF1AX genes, while tumors with a poor prognosis frequently carry mutations in the BAP1 gene.

Determining the prognosis is not only important for the patients but can also influence future treatment. Tumor tissue is required for prognostic testing, which is usually obtained by surgically removing the eye. If an eye-preserving treatment is carried out, a biopsy is required to take tissue samples.

Our Research: New Approaches in Diagnosis and Therapy

Our goal is to gain a deeper understanding of the biology of uveal melanoma and to develop innovative approaches for the diagnosis of this disease.

Current Research Projects:

• Non-invasive Diagnosis: To avoid the need for biopsy, we are investigating whether prognostic markers, such as gene mutations or chromosome 3 status, can be detected in circulating tumor DNA (cfDNA). This cfDNA is found in the blood and other body fluids of tumor patients.
• Improved Metastasis Screening: We are investigating whether the analysis of cfDNA in blood plasma could improve current methods for the early detection of metastases, especially in patients with an unfavorable prognosis.
• Comparisons with other Melanoma Types: In another project, we are comparing the epigenetic alterations in uveal melanoma with those of other melanoma types and their precursor cells. These findings will help us to improve our understanding of the biological nature of these various types of melanoma.“

In summary, our research aims to pave new paths in the diagnosis of uveal melanoma by better understanding the molecular mechanisms of this tumor.

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