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2. June 2025
Standard diagnostics of lymphomas affecting the central nervous system (CNS) face numerous limitations and often require risky procedures, such as brain biopsy. Researchers from CEITEC Masaryk University have now introduced an innovative solution – by analysing a routine sample of cerebrospinal fluid, they can reliably detect tumour traces through so-called “liquid biopsy,” without the need for invasive surgery.
Diagnosing lymphomas in the brain and other parts of the CNS can be highly complex. Imaging methods and standard routine cell analysis of cerebrospinal fluid often fail to clearly confirm the presence of a tumour. Moreover, obtaining a sample directly from the affected brain tissue can be dangerous or even impossible.
A team from the Centre for Molecular Medicine at CEITEC Masaryk University and the Department of Internal Medicine – Haematology and Oncology at University Hospital Brno focused on a less invasive solution: liquid biopsy, which analyses circulating tumour DNA (ctDNA) in samples of cerebrospinal fluid or peripheral blood. This DNA is released into body fluids by tumour cells and can be detected even when no tumour cells – or only a few – are directly present in the sample.
“It’s like looking for traces left behind by an intruder – even if you can’t see them directly, they leave evidence behind. And we can read this genetic trace,” says Veronika Navrkalová, the study’s first author. “Our research shows that analysing ctDNA in cerebrospinal fluid is a reliable and practical tool for non-invasive detection of both primary and secondary CNS involvement in lymphoma patients.”
The analysis, performed on real patients treated at University Hospital Brno, showed that this approach – especially when targeting multiple types of genetic changes – can detect brain lymphoma with 90% accuracy. That’s significantly more than conventional tests such as flow cytometry, which looks for tumour cells in the fluid but often misses them if there are only a few. In contrast, ctDNA analysis provides a more sensitive result from a sample of cerebrospinal fluid, which is routinely collected through lumbar puncture.
The research team used next-generation sequencing (NGS) and developed a custom test capable of analysing several different genetic markers at once. This increased the chance of tumour detection, even in cases where standard tests targeting a single abnormality failed. The most commonly identified changes were mutations in the MYD88 and PIM1 genes, as well as broader chromosomal alterations typical of brain lymphomas.
“This new approach has strong potential to improve the diagnosis of both primary and secondary CNS lymphomas, and may also serve as a crucial tool in detecting disease recurrence,” adds Andrea Janíková, who at the time of the research led the lymphoma group at the Department of Internal Medicine – Haematology and Oncology at University Hospital Brno.
The research was supported by both Czech and European grants, including the Czech Health Research Council (AZV) of the Czech Ministry of Health and the EXCELES programme. The study was published in the journal Biomarker Research.
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