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.

• Klíčová slova
• Cell-free DNA, Central nervous system involvement, High-grade B-cell lymphoma, Integrative diagnostics, Next-generation sequencing,
• MeSH
• B-buněčný lymfom genetika   patologie   diagnóza   diagnostické zobrazování   MeSH
• cirkulující nádorová DNA genetika   MeSH
• difúzní velkobuněčný B-lymfom genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lokální recidiva nádoru patologie   genetika   MeSH
• magnetická rezonanční tomografie * MeSH
• nádorové biomarkery genetika   MeSH
• nádory centrálního nervového systému genetika   patologie   diagnostické zobrazování   MeSH
• vysoce účinné nukleotidové sekvenování * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• cirkulující nádorová DNA MeSH
• nádorové biomarkery MeSH

The grave situated in the central part of the reformed church in Silická Brezová in Slovakia contained the human skeletal remains of one individual. The aim of this study was to confirm the presence of ankylosing spondylitis on these skeletal remains. Determine the sex, age at death, stature, and ancestry of the individual by anthropological methods, and also record and identify other pathological manifestations of diseases. A macroscopic examination has been carried out, with the analysis of the palaeopathological conditions of the remains, and subsequently an X-ray and CT completed analysis. The skeleton belonged to a male of European origin, aged between 45 and 60 years at the time of death. Stature calculated from the maximal length of his femur was 163.12 ± 3.48 cm. Pathological features were identified on the many bones. Ankylosis affected almost the whole spinal cord, including the sacroiliac joints. The skeleton also presented the manifestation of many entheseal changes. Presence of the ankylosing spondylitis was confirmed by a combination of standard anthropological methods and modern diagnostic methods (X-ray and CT analysis). It is a specific disease with a prevalence between 0.1 and 1% worldwide. There is a potential for further genetic research to determine the degree of genetic relatedness with an individual living in this village who has been diagnosed with the same disease.

• Klíčová slova
• Ankylosing spondylitis, Enthesopathy, Paleopathology, Radiology, Skeleton,
• MeSH
• ankylózující spondylitida * diagnostické zobrazování   genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• rentgendiagnostika MeSH
• sakroiliakální kloub patologie   MeSH
• tělesné pozůstatky MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Slovenská republika MeSH