2021
LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies
NAVRKALOVÁ, Veronika; Karla PLEVOVÁ; Jakub HYNŠT; Karol PÁL; Andrea MAREČKOVÁ et. al.Základní údaje
Originální název
LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies
Autoři
NAVRKALOVÁ, Veronika; Karla PLEVOVÁ; Jakub HYNŠT; Karol PÁL; Andrea MAREČKOVÁ; Tomáš REIGL; Hana JELÍNKOVÁ; Zuzana VRZALOVÁ; Kamila STRÁNSKÁ; Šárka PAVLOVÁ ORCID; Anna PANOVSKÁ; Andrea JANÍKOVÁ; Michael DOUBEK; Jana KOTAŠKOVÁ a Šárka POSPÍŠILOVÁ
Vydání
The journal of molecular diagnostics. Bethesda, MD, American Society for Investigative Pathology/Association for Molecular Pathology, 2021, 1525-1578
Další údaje
Jazyk
angličtina
Typ výsledku
Článek v odborném periodiku
Obor
30109 Pathology
Stát vydavatele
Spojené státy
Utajení
není předmětem státního či obchodního tajemství
Odkazy
Impakt faktor
Impact factor: 5.341
Kód RIV
RIV/00216224:14740/21:00124277
Organizační jednotka
Středoevropský technologický institut
UT WoS
000678377900007
EID Scopus
2-s2.0-85110298539
Klíčová slova anglicky
LYNX; Lymphoid Malignancies; Prognostic and Predictive Markers
Příznaky
Mezinárodní význam, Recenzováno
Změněno: 15. 10. 2024 14:02, Ing. Martina Blahová
Anotace
V originále
B-cell neoplasms represent a clinically heterogeneous group of hematologic malignancies with considerably diverse genomic architecture recently endorsed by next-generation sequencing (NGS) studies. Because multiple genetic defects have a potential or confirmed clinical impact, a tendency toward more comprehensive testing of diagnostic, prognostic, and predictive markers is desired. This study introduces the design, validation, and implementation of an integrative, custom-designed, capture-based NGS panel titled LYmphoid NeXt-generation sequencing (LYNX) for the analysis of standard and novel molecular markers in the most common lymphoid neoplasms (chronic lymphocytic leukemia, acute lymphoblastic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and mantle cell lymphoma). A single LYNX test provides the following: i) accurate detection of mutations in all coding exons and splice sites of 70 lymphoma-related genes with a sensitivity of 5% variant allele frequency, ii) reliable identification of large genome-wide (>6 Mb) and recurrent chromosomal aber-rations (>300 kb) in at least 20% of the clonal cell fraction, iii) the assessment of immunoglobulin and T-cell receptor gene rearrangements, and iv) lymphoma-specific translocation detection. Dedicated bioinformatic pipelines were designed to detect all markers mentioned above. The LYNX panel repre-sents a comprehensive, up-to-date tool suitable for routine testing of lymphoid neoplasms with research and clinical applicability. It allows a wide adoption of capture-based targeted NGS in clinical practice and personalized management of patients with lymphoproliferative diseases.
Návaznosti
| LM2018140, projekt VaV |
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| 90132, velká výzkumná infrastruktura |
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