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
Department of Pathology, Zealand University Hospital, Roskilde, Denmark.
Department of Pathology, Copenhagen University Hospital, Herlev, Denmark.
Leuk Lymphoma. 2024 Jun;65(6):758-767. doi: 10.1080/10428194.2024.2313623. Epub 2024 Feb 10.
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 , , , , and . Additional somatic mutations were detected in 17 genes with four mutations categorized as pathogenic or likely pathogenic. and mutations were associated with adverse clinical phenotypes. NGS performance for the variant was 96% when compared to qPCR. In conclusion, targeted NGS provided important diagnostic and prognostic information in a routine clinical setting.
下一代测序（NGS）能全面洞察淋巴瘤的基因组格局。我们研究了华氏巨球蛋白血症（WM）或淋巴浆细胞淋巴瘤（LPL）患者的突变模式，以及定制的NGS淋巴瘤检测板的诊断和临床应用。回顾了连续的45例患者，并将NGS分析作为常规诊断流程的一部分进行。定制设计的NGS检测板检测了淋巴肿瘤中59个具有已知临床意义的基因的所有编码序列。最常发生突变的基因是 、 、 、 和 。在17个基因中检测到其他体细胞突变，其中4个突变被归类为致病性或可能致病性。 和 突变与不良临床表型相关。与qPCR相比，NGS对 变体的检测性能为96%。总之，靶向NGS在常规临床环境中提供了重要的诊断和预后信息。
