Integrativní diagnostika u pacienta s agresivním lymfomem postihujícím centrální nervový systém: využití komplexního NGS panelu a analýzy cfDNA

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Title in English 143 / 5 000 Výsledky překladu Výsledek překladu Integrative diagnostics in a patient with aggressive central nervous system lymphoma: use of a comprehensive NGS panel and cfDNA analysis
Authors

NAVRKALOVÁ Veronika MAREČKOVÁ Andrea PORC Jakub Paweł BOHÚNOVÁ Michaela BRAVENCOVÁ Lýdie JAROŠOVÁ Marie POSPÍŠILOVÁ Šárka KOTAŠKOVÁ Jana JANÍKOVÁ Andrea

Year of publication 2023
Type Conference abstract
MU Faculty or unit

Central European Institute of Technology

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Description We present a case study of a patient with aggressive B-cell lymphoma and demonstrate the benefits of utilizing modern laboratory methods in addition to standard examinations. By integrating the results of various tests, we can refine the diagnosis and monitor the progression of the disease more accurately. Using the NGS panel LYNX (PMID: 34082072), we compared genomic aberrations found in different biological materials such as bone marrow, plasma, and cerebrospinal fluid. Unfortunately, the initial histological material was not available. However, consolidating the results of molecular examinations allowed us to classify this case as "DLBCL/high-grade B-cell lymphoma with MYC and BCL2 rearrangement." Combining comprehensive testing with less invasive analysis of liquid biopsies enables individual tumor genotyping and detection of lymphoma progression into the CNS.
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