Details

Autor(en) / Beteiligte

• Scheijen, Blanca
• Meijers, Ruud W J
• Rijntjes, Jos
• van der Klift, Michèle Y
• Möbs, Markus
• Steinhilber, Julia
• Reigl, Tomas
• van den Brand, Michiel
• Kotrová, Michaela
• Ritter, Julia-Marie
• Catherwood, Mark A
• Stamatopoulos, Kostas
• Brüggemann, Monika
• Davi, Frédéric
• Darzentas, Nikos
• Pott, Christiane
• Fend, Falko
• Hummel, Michael
• Langerak, Anton W
• Groenen, Patricia J T A

Titel

Next-generation sequencing of immunoglobulin gene rearrangements for clonality assessment: a technical feasibility study by EuroClonality-NGS

Ist Teil von

• Leukemia, 2019-09, Vol.33 (9), p.2227-2240

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2019

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• One of the hallmarks of B lymphoid malignancies is a B cell clone characterized by a unique footprint of clonal immunoglobulin (IG) gene rearrangements that serves as a diagnostic marker for clonality assessment. The EuroClonality/BIOMED-2 assay is currently the gold standard for analyzing IG heavy chain (IGH) and κ light chain (IGK) gene rearrangements of suspected B cell lymphomas. Here, the EuroClonality-NGS Working Group presents a multicentre technical feasibility study of a novel approach involving next-generation sequencing (NGS) of IGH and IGK loci rearrangements that is highly suitable for detecting IG gene rearrangements in frozen and formalin-fixed paraffin-embedded tissue specimens. By employing gene-specific primers for IGH and IGK amplifying smaller amplicon sizes in combination with deep sequencing technology, this NGS-based IG clonality analysis showed robust performance, even in DNA samples of suboptimal DNA integrity, and a high clinical sensitivity for the detection of clonal rearrangements. Bioinformatics analyses of the high-throughput sequencing data with ARResT/Interrogate, a platform developed within the EuroClonality-NGS Working Group, allowed accurate identification of clonotypes in both polyclonal cell populations and monoclonal lymphoproliferative disorders. This multicentre feasibility study is an important step towards implementation of NGS-based clonality assessment in clinical practice, which will eventually improve lymphoma diagnostics.