Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, The Netherlands.
Leuk Lymphoma. 2024 Aug;65(8):1031-1043. doi: 10.1080/10428194.2024.2341151. Epub 2024 Apr 15.
The molecular landscape of chronic lymphocytic leukemia (CLL) has been extensively characterized, and various potent prognostic biomarkers were discovered. The genetic composition of the B-cell receptor (BCR) immunoglobulin (IG) was shown to be especially powerful for discerning indolent from aggressive disease at diagnosis. Classification based on the IG heavy chain variable gene (IGHV) somatic hypermutation status is routinely applied. Additionally, BCR IGH stereotypy has been implicated to improve risk stratification, through characterization of subsets with consistent clinical profiles. Despite these advances, it remains challenging to predict when CLL progresses to requiring first-line therapy, thus emphasizing the need for further refinement of prognostic indicators. Signaling pathways downstream of the BCR are essential in CLL pathogenesis, and dysregulated components within these pathways impact disease progression. Considering not only genomics but the entirety of factors shaping BCR signaling activity, this review offers insights in the disease for better prognostic assessment of CLL.
慢性淋巴细胞白血病 (CLL) 的分子特征已经得到了广泛的描述,并且发现了各种有效的预后生物标志物。B 细胞受体 (BCR) 免疫球蛋白 (IG) 的遗传组成在诊断时区分惰性和侵袭性疾病方面特别有效。基于 IG 重链可变基因 (IGHV) 体细胞高突变状态的分类通常适用。此外,通过对具有一致临床特征的亚群进行特征描述,BCR IGH 刻板印象被认为可以改善风险分层。尽管取得了这些进展,但仍然难以预测 CLL 何时进展到需要一线治疗,因此强调需要进一步完善预后指标。BCR 下游的信号通路在 CLL 的发病机制中至关重要,这些通路中失调的成分会影响疾病的进展。考虑到不仅是基因组学,还有塑造 BCR 信号活性的所有因素,本综述为更好地评估 CLL 的预后提供了对该疾病的深入了解。