Mutational landscape in Waldenström macroglobulinemia evaluated using a next-generation sequencing lymphoma panel in routine clinical practice

Simon Østergaard, Lone Schejbel, Marie Fredslund Breinholt, Mette Ølgod Pedersen, Troels Hammer, Lars Munksgaard, Peter Nørgaard, Estrid Høgdall, Lise Mette Rahbek Gjerdrum, Torsten Holm Nielsen*

*Corresponding author for this work

Abstract

Next-generation sequencing (NGS) affords comprehensive insights into the genomic landscape of lymphomas. We examined the mutational pattern in patients with Waldenström macroglobulinemia (WM) or lymphoplasmacytic lymphoma (LPL) as well as the diagnostic and clinical utility of a tailored NGS lymphoma panel. A consecutive series of 45 patients was reviewed and NGS analysis was performed as part of a routine diagnostic setup. The custom designed NGS panel assayed all coding sequences of 59 genes of known clinical significance in lymphoid neoplasms. The most frequently mutated genes were MYD88, CXCR4, BIRC3, CD79B, and ARID1A. Additional somatic mutations were detected in 17 genes with four mutations categorized as pathogenic or likely pathogenic. BIRC3 and TP53 mutations were associated with adverse clinical phenotypes. NGS performance for the MYD88L265P variant was 96% when compared to qPCR. In conclusion, targeted NGS provided important diagnostic and prognostic information in a routine clinical setting.

Original languageEnglish
JournalLeukemia and Lymphoma
Pages (from-to)1-10
Number of pages10
ISSN1042-8194
DOIs
Publication statusE-pub ahead of print - 10 Feb 2024

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