Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clínic de Barcelona, Villarroel 170, 08036, Barcelona, Spain; Institut D'Investigacions Biomèdiques August Pi I Sunyer, University of Barcelona, Spain.
Hematol Oncol Clin North Am. 2023 Aug;37(4):659-670. doi: 10.1016/j.hoc.2023.04.002. Epub 2023 May 19.
With the increasing availability of sequencing techniques and new polymerase chain reaction-based methods, data regarding the genomic profile of Waldenström macroglobulinemia (WM) are being continuously analyzed and reproduced. MYD88 and CXCR4 mutations are highly prevalent in all the stages of WM, including the early IgM monoclonal gammopathy of undetermined significance or a more advanced stage, such as smoldering WM. Thus, there is a need to define genotypes before starting either standard treatment regimens or clinical trials. Here, we review the genomic profile of WM and its clinical implications while focusing on recent advances.
随着测序技术的不断普及和新型聚合酶链反应（PCR）方法的出现，有关华氏巨球蛋白血症（WM）基因组特征的相关数据正不断被分析和重现。MYD88 和 CXCR4 突变在 WM 的所有阶段均高度普遍存在，包括早期免疫球蛋白 M 单克隆丙种球蛋白血症意义未明或更晚期阶段，如冒烟型 WM。因此，在开始标准治疗方案或临床试验之前，有必要明确基因型。在此，我们回顾了 WM 的基因组特征及其临床意义，同时重点介绍了最新进展。
