Northern Blood Research Centre, Kolling Institute of Medical Research, Sydney, NSW, Australia.
School of Life and Environmental Science, University of Sydney, Sydney, NSW, Australia.
Br J Haematol. 2019 Sep;186(5):668-684. doi: 10.1111/bjh.16102. Epub 2019 Jul 31.
Chronic lymphocytic leukaemia (CLL) is characterised by the clonal expansion of mature, CD5 positive, B lymphocytes in the blood, marrow, lymph nodes and spleen. For the majority of patients, CLL follows an indolent clinical course, while a proportion of patients experience rapid disease progression. Despite the strong correlation between certain genetic defects and prognosis, there remains no single unifying pathogenic lesion in CLL. With recent advances in therapy it is increasingly important to stratify CLL patients according to risk. This has been highlighted by two recent studies, the first showing that immunoglobulin heavy chain mutational status predicts a durable response to frontline chemoimmunotherapy and the second showing that complex karyotype is a stronger predictor of poor response to ibrutinib and venetoclax therapy than TP53 deletion. In this review we discuss the molecular features of CLL and how technological advances can identify patient subsets and stratify them according to risk.
慢性淋巴细胞白血病（CLL）的特征是血液、骨髓、淋巴结和脾脏中成熟的、CD5 阳性的 B 淋巴细胞的克隆性扩张。对于大多数患者来说，CLL 具有惰性的临床过程，而一部分患者则经历快速的疾病进展。尽管某些遗传缺陷与预后之间存在很强的相关性，但 CLL 中仍然没有单一的统一的致病病变。随着治疗的最新进展，根据风险对 CLL 患者进行分层越来越重要。这已被最近的两项研究强调，第一项研究表明，免疫球蛋白重链突变状态预测一线化疗免疫治疗的持久反应，第二项研究表明，复杂核型比 TP53 缺失更能预测对伊布替尼和维奈托克治疗的反应不良。在这篇综述中，我们讨论了 CLL 的分子特征，以及技术进步如何识别患者亚群，并根据风险对其进行分层。
