J 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

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
Název: e-Infrastruktura CZ (Akronym: e-INFRA CZ)
Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, e-Infrastruktura CZ
90132, velká výzkumná infrastruktura
Název: NCMG II