Lekárska genetika a diagnostika 1/2025
Liquid biopsy in diagnostics and treatment of brain tumors
Brain tumors are the second most common cancer in children after leukemia. However, they are rare in adults, they are characterized by a very poor prognosis. Currently, imaging methods such as magnetic resonance imaging, surgical resection and subsequent histopathological diagnosis supplemented by molecular-biological methods such as massively parallel sequencing and methylation profiling are used for their diagnosis. Recently, liquid biopsy is also coming to the fore. This term includes all methods that use body fluids as input material, such as blood, cerebrospinal fluid (CSF), saliva or urine. The principle of massive parallel sequencing of circulating tumor DNA and subsequent detection of tumor-specific mutations in CSF or blood plasma is used in the diagnosis of brain tumors. This approach can help in the „staging“ of the disease, the early detection of relapse or the distinction between „pseudoprogression“ observed by imaging techniques and the actual progression of a brain tumor. Although much attention is currently being paid to the use of liquid biopsy in the diagnosis and treatment of brain tumors, the results are still at the research level without a clear use in clinical practice. In the case of the development of sufficiently specific and sensitive techniques is liquid biopsy great tool for the future.
Keywords: liquid biopsy, next-generation sequencing, brain tumors, cerebrospinal fluid, blood
