Advanced NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativity

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F25%3A00081477" target="_blank" >RIV/65269705:_____/25:00081477 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/25:00141253
Result on the web
<a href="https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-025-01609-2" target="_blank" >https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-025-01609-2</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13000-025-01609-2" target="_blank" >10.1186/s13000-025-01609-2</a>

Result language
angličtina
Original language name
Advanced NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativity
Original language description
High-grade B-cell lymphomas (HGBCLs) are aggressive blood cancers with a severe disease course, especially when the central nervous system (CNS) is involved. Standard histological examination depends on tissue availability and is currently supplemented with molecular tests, as the status of MYC, BCL2, or BCL6 gene rearrangements is required for proper lymphoma classification. This case report demonstrates the relevance of cerebrospinal fluid (CSF) cell-free DNA testing by integrative next-generation sequencing (NGS) panel. The benefit of this approach resided in tumor genotyping alongside the proof of CNS progression despite MRI negativity, revealing a clonal relationship with the primary tumor lesion. In addition, our strategy allowed us to classify the tumor as DLBCL/HGBL-MYC/BCL2 entity. In clinical practice, such a minimally invasive approach provides a more sensitive tool than standard imaging and cell analyzing techniques, enabling more accurate disease monitoring and relapse prediction in particular cases.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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