Die Ophthalmologie最新文献

Background: A fundamental prerequisite for the development of clinically manifested metastases in uveal melanoma (UM) is the hematogenous dissemination of melanoma cells, which circulate in the systemic circulation, deposit in organs and can subsequently colonize the organs.

Material and methods: This article presents a review of the literature on the detection of circulating tumor cells (CTC) from UM and their relevance for the clinical and pathophysiological aspects of the malignancy.

Results: Since the first description of CTC in UM patients 20 years ago, only 20 articles have been published on the detection of intact CTCs in UM. Besides demonstrating the presence of CTCs in the systemic circulation, these articles give insights into the pathophysiology and chronology of CTC dissemination, the diagnostics and risk stratification of UM.

Conclusion: The detection of CTC in UM has proved to be beneficial in many ways. The early time of cell dissemination and also the associated factors should lead to a rethinking in the clinical routine in the context of the fatal danger of metastases.

Electrophysiological examinations are used in ophthalmology to determine the functionality of the neurons of the visual pathway. As electrophysiological examinations are independent of the subjective perception and response of the patient, they are considered to be objective functional diagnostics of vision. Electroretinography (ERG) is used to examine the retina (especially the photoreceptors), electro-oculography (EOG) is used to examine the functionality of the retinal pigment epithelium and visually evoked potentials (VEP) are used to evaluate the integrity of the entire visual pathway. Abnormalities in electrophysiological responses should always be interpreted in the context of other functional and morphological findings.

The evaluation of real-world data (RWD) enables insights to be gained from a wide range of patient data collected in routine clinical practice. In addition, multicenter analyses represent a broad and representative patient population and have the potential to capture the actual treatment situation. As a basis for this, the definition of datasets and an infrastructure for data exchange is necessary. Data integration centers (DIC) have already been established at (university) hospitals throughout Germany in order to extract RWD for scientific analyses from the various source systems and integrate them into research-compatible data infrastructures. The project described here aims to demonstrate the added value of this data integration using a case of application in ophthalmology, defining a core dataset as an ophthalmology extension module and establishing a cross-site data exchange infrastructure. As a first step, the treatment success of eye diseases treated with intravitreal injection (IVI) should be improved. To achieve this goal a dashboard for clinical data is provided that clearly visualizes the merged data. Furthermore, algorithms will be developed to identify new imaging biomarkers that can be used for treatment monitoring and predict treatment outcomes.

The liquid biopsy is playing an increasingly more important role in the diagnosis and treatment of retinoblastomas. The possibility of safe and uncomplicated retrieval and examination of aqueous humour from the anterior chamber contributes significantly to the differential diagnosis and to a better understanding of the disease. It helps with the prognosis both in terms of eye-preserving treatment and in estimating the risk of metastatic disease and helps with genetic uncertainties in unilateral disease. It is expected that the further development of liquid biopsy methods will form the basis for a personalized diagnosis and treatment of children with a retinoblastoma in the future.

Background: Cell-free DNA (cfDNA) and the tumor DNA it contains can be detected in various body fluids and can be obtained in a minimally invasive manner using a liquid biopsy. The fragmented cell-free tumor DNA (ctDNA) serves as a marker for the presence of tumor cells in the body and its analysis enables genetic tumor characteristics to be determined. For some nonocular tumors ctDNA is already approved as a predictive or prognostic marker.

Methods: This literature review article describes examples of the use of ctDNA as a biomarker in nonocular tumors and the current status of ctDNA analysis in cases of uveal melanomas. For this purpose, a selective literature search was carried out via PubMed.

Results: Uveal melanomas are nowadays usually treated by eye-preserving therapy. In these cases, there is usually no tumor tissue available for further diagnostic testing. Alternatively, molecular characteristics of the tumor can be determined by the genetic analysis of ctDNA. In uveal melanomas the presence of ctDNA in the plasma at the time of the primary diagnosis is controversial; however, an increase in the amount of ctDNA, which can be used to investigate diagnostically and prognostically relevant genetic changes, was detected during irradiation therapy of the primary tumor in some patients. In the later course of the disease, the amount of ctDNA in the plasma is a suitable marker for metastatic progression. In some cases, an increase in ctDNA levels could be recognized several months before the clinical detection of metastases.

Conclusion: The analysis of cfDNA in patients with a uveal melanoma is a promising and minimally invasive method for obtaining information about the tumor or the course of the disease. It is currently being investigated which patients could benefit from it in the future. Several issues related to standardization and technical validation must be addressed for its routine clinical application.

The liquid biopsy is a cutting-edge technique that involves analysing non-solid biological tissues, primarily blood but also ocular fluids, for the presence of cancer cells or fragments of tumour DNA. Unlike traditional biopsies, liquid biopsies are usually minimally invasive and can be performed more frequently, enabling continuous monitoring of disease progression and treatment efficacy. This article (and the associated series of articles) outlines the key developments in liquid biopsy, which include the analysis of circulating tumor DNA (ctDNA), circulating tumor cells (CTC) and exosomal RNA and protein biomarkers. Techniques, such as digital droplet PCR and next-generation sequencing (NGS) have made it possible to detect even very low levels of ctDNA, which is crucial for early cancer detection and monitoring minimal residual disease. The detection of rare CTCs is enhanced by techniques, such as microfluidic devices and immunomagnetic separation. Multiomic approaches, whereby exosomal RNA, protein and ctDNA analyses are combined, help to create a more comprehensive picture of tumour biology, including insights into tumour heterogeneity, potentially leading to better diagnostic and prognostic tools and helping to predict treatment response and resistance. The challenges of liquid biopsy application, which will be described in the following article, include (a) standardization, (b) cost and accessibility, (c) validation and clinical utility. However, the liquid biopsy represents a promising frontier in the application of precision ocular oncology, with ongoing research likely to expand its applications and improve its effectiveness in the coming years.