| Literature DB >> 34082072 |
Veronika Navrkalova1, Karla Plevova2, Jakub Hynst3, Karol Pal4, Andrea Mareckova5, Tomas Reigl3, Hana Jelinkova5, Zuzana Vrzalova1, Kamila Stranska5, Sarka Pavlova1, Anna Panovska5, Andrea Janikova5, Michael Doubek2, Jana Kotaskova1, Sarka Pospisilova6.
Abstract
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 aberrations (≥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 represents 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.Entities:
Mesh:
Substances:
Year: 2021 PMID: 34082072 DOI: 10.1016/j.jmoldx.2021.05.007
Source DB: PubMed Journal: J Mol Diagn ISSN: 1525-1578 Impact factor: 5.568