Další formáty:
BibTeX
LaTeX
RIS
@article{1836805,
author = {Navrkalová, Veronika and Plevová, Karla and Hynšt, Jakub and Pál, Karol and Marečková, Andrea and Reigl, Tomáš and Jelínková, Hana and Vrzalová, Zuzana and Stránská, Kamila and Pavlová, Šárka and Panovská, Anna and Janíková, Andrea and Doubek, Michael and Kotašková, Jana and Pospíšilová, Šárka},
article_location = {Bethesda, MD},
article_number = {8},
doi = {http://dx.doi.org/10.1016/j.jmoldx.2021.05.007},
keywords = {LYNX; Lymphoid Malignancies; Prognostic and Predictive Markers},
language = {eng},
issn = {1525-1578},
journal = {The journal of molecular diagnostics.},
title = {LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies},
url = {https://www.sciencedirect.com/science/article/pii/S1525157821001343?via%3Dihub},
volume = {23},
year = {2021}
}
TY - JOUR
ID - 1836805
AU - Navrkalová, Veronika - Plevová, Karla - Hynšt, Jakub - Pál, Karol - Marečková, Andrea - Reigl, Tomáš - Jelínková, Hana - Vrzalová, Zuzana - Stránská, Kamila - Pavlová, Šárka - Panovská, Anna - Janíková, Andrea - Doubek, Michael - Kotašková, Jana - Pospíšilová, Šárka
PY - 2021
TI - LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies
JF - The journal of molecular diagnostics.
VL - 23
IS - 8
SP - 959-974
EP - 959-974
PB - American Society for Investigative Pathology/Association for Molecular Pathology
SN - 15251578
KW - LYNX
KW - Lymphoid Malignancies
KW - Prognostic and Predictive Markers
UR - https://www.sciencedirect.com/science/article/pii/S1525157821001343?via%3Dihub
N2 - 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.
ER -
NAVRKALOVÁ, Veronika, Karla PLEVOVÁ, Jakub HYNŠT, Karol PÁL, Andrea MAREČKOVÁ, Tomáš REIGL, Hana JELÍNKOVÁ, Zuzana VRZALOVÁ, Kamila STRÁNSKÁ, Šárka PAVLOVÁ, Anna PANOVSKÁ, Andrea JANÍKOVÁ, Michael DOUBEK, Jana KOTAŠKOVÁ a Šárka POSPÍŠILOVÁ. LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies. \textit{The journal of molecular diagnostics.}. Bethesda, MD: American Society for Investigative Pathology/Association for Molecular Pathology, 2021, roč.~23, č.~8, s.~959-974. ISSN~1525-1578. Dostupné z: https://dx.doi.org/10.1016/j.jmoldx.2021.05.007.
|
