Improving the Diagnosis of Vitreoretinal Lymphoma Through Standardized Molecular Testing

Vitreoretinal lymphoma (VRL) is a malignant disease that originates in certain cells of the immune system (B cells) and is classified as a primary lymphoma of the central nervous system. It primarily affects the vitreous and the retina of the eye. VRL is rare and is often mistaken for an eye inflammation (vitritis or uveitis) because the symptoms are very similar. As a result, the correct diagnosis and the start of appropriate treatment are often delayed. Current standard diagnostic procedures include three methods: examining cells under a microscope, identifying characteristics of immune cells, and determining whether all diseased cells originate from a single progenitor cell. However, these methods detect only about 70% of cases. In recent years, new molecular techniques have been developed. These include genetic analysis using next-generation sequencing, which specifically searches for changes in certain genes. In addition, the analysis of small RNA molecules, which can serve as biomarkers, is employed. These advanced methods appear to be more sensitive and could improve diagnosis.

The goal of this observational study is to establish a Germany-wide network in which all samples from patients with suspected VRL are centrally analyzed using these new methods. A total of at least 220 patients are to be enrolled in the study. The study will compare the effectiveness of the advanced diagnostic methods with that of standard diagnostic methods. In addition, all patients (including those diagnosed with eye inflammation) will be followed up for 24 months.

Eligible participants are women and men aged 18 and older who are suspected of having VRL and for whom a diagnostic vitrectomy (surgical removal of vitreous tissue from the eye) is planned. Patients who have received chemotherapy for lymphoma within the last three months or who have taken corticosteroids within two weeks prior to surgery are not eligible to participate.