Mutational landscape in Waldenström macroglobulinemia evaluated using a next-generation sequencing lymphoma panel in routine clinical practice
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Mutational landscape in Waldenström macroglobulinemia evaluated using a next-generation sequencing lymphoma panel in routine clinical practice. / Østergaard, Simon; Schejbel, Lone; Breinholt, Marie Fredslund; Pedersen, Mette Ølgod; Hammer, Troels; Munksgaard, Lars; Nørgaard, Peter; Høgdall, Estrid; Gjerdrum, Lise Mette Rahbek; Nielsen, Torsten Holm.
I: Leukemia and Lymphoma, 2024.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Mutational landscape in Waldenström macroglobulinemia evaluated using a next-generation sequencing lymphoma panel in routine clinical practice
AU - Østergaard, Simon
AU - Schejbel, Lone
AU - Breinholt, Marie Fredslund
AU - Pedersen, Mette Ølgod
AU - Hammer, Troels
AU - Munksgaard, Lars
AU - Nørgaard, Peter
AU - Høgdall, Estrid
AU - Gjerdrum, Lise Mette Rahbek
AU - Nielsen, Torsten Holm
N1 - Publisher Copyright: © 2024 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - histological transformation
KW - MYD88
KW - next-generation sequencing
KW - somatic mutation
KW - Waldenström macroglobulinemia
U2 - 10.1080/10428194.2024.2313623
DO - 10.1080/10428194.2024.2313623
M3 - Journal article
C2 - 38340359
AN - SCOPUS:85184928780
JO - Leukemia and Lymphoma
JF - Leukemia and Lymphoma
SN - 1042-8194
ER -
ID: 383708626