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Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas

Please always quote using this URN: urn:nbn:de:bvb:20-opus-326478
  • Diagnosing any of the more than 30 types of T-cell lymphomas is considered a challenging task for many pathologists and currently requires morphological expertise as well as the integration of clinical data, immunophenotype, flow cytometry and clonality analyses. Even considering all available information, some margin of doubt might remain using the current diagnostic procedures. In recent times, the genetic landscape of most T-cell lymphomas has been elucidated, showing a number of diagnostically relevant mutations. In addition, recent dataDiagnosing any of the more than 30 types of T-cell lymphomas is considered a challenging task for many pathologists and currently requires morphological expertise as well as the integration of clinical data, immunophenotype, flow cytometry and clonality analyses. Even considering all available information, some margin of doubt might remain using the current diagnostic procedures. In recent times, the genetic landscape of most T-cell lymphomas has been elucidated, showing a number of diagnostically relevant mutations. In addition, recent data indicate that some of these genetic alterations might bear prognostic and predictive value. Extensive genetic analyses, such as whole exome or large panel sequencing are still expensive and time consuming, therefore limiting their application in routine diagnostic. We therefore devoted our effort to develop a lean approach for genetic analysis of T-cell lymphomas, focusing on maximum efficiency rather than exhaustively covering all possible targets. Here we report the results generated with our small amplicon-based panel that could be used routinely on paraffin-embedded and even decalcified samples, on a single sample basis in parallel with other NGS-panels used in our routine diagnostic lab, in a relatively short time and with limited costs. We tested 128 available samples from two German reference centers as part of our routine work up (among which 116 T-cell lymphomas), which is the largest routine diagnostic series reported to date. Our results showed that this assay had a very high rate of technical success (97%) and could detect mutations in the majority (79%) of tested T-cell lymphoma samples.show moreshow less

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Metadaten
Subtitle (English):report of 128 cases from two German reference centers
Author: Julia Böck, Katja Maurus, Elena Gerhard-Hartmann, Stephanie Brändlein, Katrin S. Kurz, German Ott, Ioannis Anagnostopoulos, Andreas Rosenwald, Alberto Zamò
URN:urn:nbn:de:bvb:20-opus-326478
Document Type:Journal article
Faculties:Medizinische Fakultät / Pathologisches Institut
Language:English
Parent Title (English):Frontiers in Oncology
ISSN:2234-943X
Year of Completion:2023
Volume:13
Article Number:1231601
Source:Frontiers in Oncology (2023) 13:1231601. https://doi.org/10.3389/fonc.2023.1231601
DOI:https://doi.org/10.3389/fonc.2023.1231601
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:FFPE; NGS; T-cell lymphoma; diagnostics; mutation; panel-sequencing
Release Date:2024/05/10
Date of first Publication:2023/08/16
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International