Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease, as some patients progress rapidly toward the more advanced studies, whereas others survive for a long period without the need for treatment. This heterogeneity of clinical course was somehow unexplained until studies on the CLL cell features disclosed that the CLL clones were heterogeneous and were characterized by different phenotypic and genotypic features in the different patients. On the basis of these observations, it was determined in retrospective studies that clones characterized by unmutated IGHV genes, and/or CD38 and/or ZAP-70 expression conferred a more severe prognosis to the CLL patients. Here, we present data on prospective studies carried out on Binet A-stage patients, in whom the markers were determined at diagnosis and their predictive value was assessed in comparison with chromosomal abnormalities and gene expression or micro RNA profiles. In addition, hypothesis on the potential pathogenetic role of these markers will be presented.

慢性淋巴细胞白血病 (CLL) 是一种临床异质性疾病，因为一些患者迅速向更高级的研究进展，而另一些患者无需治疗即可存活很长时间。这种临床过程的异质性在某种程度上无法解释，直到对 CLL 细胞特征的研究揭示 CLL 克隆是异质的，并且在不同患者中具有不同的表型和基因型特征。在这些观察的基础上，回顾性研究确定以未突变IGHV为特征的克隆基因和/或CD38和/或ZAP-70表达赋予CLL患者更严重的预后。在这里，我们提供了对 Binet A 期患者进行的前瞻性研究的数据，这些患者在诊断时确定了这些标志物，并与染色体异常和基因表达或微 RNA 谱进行了比较，评估了它们的预测价值。此外，将提出关于这些标志物潜在致病作用的假设。