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
Abstract 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...
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BMC
2025-02-01
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| Series: | Diagnostic Pathology |
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| Online Access: | https://doi.org/10.1186/s13000-025-01609-2 |
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| author | Veronika Navrkalova Andrea Mareckova Jakub Porc Samuel Hricko Viera Hrabcakova Jarmila Kissova Sona Kundova Marie Jarosova Sarka Pospisilova Jana Kotaskova Andrea Janikova |
| author_facet | Veronika Navrkalova Andrea Mareckova Jakub Porc Samuel Hricko Viera Hrabcakova Jarmila Kissova Sona Kundova Marie Jarosova Sarka Pospisilova Jana Kotaskova Andrea Janikova |
| author_sort | Veronika Navrkalova |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-e7f69f38f76d4ab9a78c4c667806677d |
| institution | Kabale University |
| issn | 1746-1596 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj-art-e7f69f38f76d4ab9a78c4c667806677d2025-02-09T12:09:04ZengBMCDiagnostic Pathology1746-15962025-02-012011610.1186/s13000-025-01609-2Advanced NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativityVeronika Navrkalova0Andrea Mareckova1Jakub Porc2Samuel Hricko3Viera Hrabcakova4Jarmila Kissova5Sona Kundova6Marie Jarosova7Sarka Pospisilova8Jana Kotaskova9Andrea Janikova10Department of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityCenter of Molecular Medicine, CEITEC - Central European Institute of Technology, Masaryk UniversityDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityDepartment of Clinical Hematology, University Hospital BrnoClinic of Radiology and Nuclear Medicine, University Hospital BrnoDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk UniversityAbstract 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.https://doi.org/10.1186/s13000-025-01609-2High-grade B-cell lymphomaCentral nervous system involvementCell-free DNANext-generation sequencingIntegrative diagnostics |
| spellingShingle | Veronika Navrkalova Andrea Mareckova Jakub Porc Samuel Hricko Viera Hrabcakova Jarmila Kissova Sona Kundova Marie Jarosova Sarka Pospisilova Jana Kotaskova Andrea Janikova 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 Diagnostic Pathology High-grade B-cell lymphoma Central nervous system involvement Cell-free DNA Next-generation sequencing Integrative diagnostics |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | High-grade B-cell lymphoma Central nervous system involvement Cell-free DNA Next-generation sequencing Integrative diagnostics |
| url | https://doi.org/10.1186/s13000-025-01609-2 |
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