Dept of Laboratory Medicine, Yale School of Medicine, New Haven, CT 06520-8035, USA.
Am J Clin Pathol. 2013 Jun;139(6):708-12. doi: 10.1309/AJCPLIR4GZWX3XKA.
Chronic lymphocytic leukemia (CLL) is a monoclonal B-cell lymphoproliferative disorder generally characterized by an indolent clinical course. However, some patients with CLL will have more aggressive disease progression, and identifying that subgroup may be important for early, or perhaps more aggressive, intervention. In addition, monoclonal B-cell lymphocytosis is often found on routine laboratory evaluation, and it is important to distinguish this entity from overt CLL. Moreover, since many patients with CLL are discovered incidentally and before significant disease progression, prognostic laboratory evaluation may become increasingly efficacious as therapeutic options replace the older strategy of expectant observation. Prognostication may be especially critical if it correctly identifies patients with early stage CLL who are at high risk of clonal evolution and/ or resistance to chemoimmunotherapy. Laboratory studies include surface CD38 and intracellular ZAP-70 expression by flow cytometry, serum β2-microglobulin, and immunoglobulin heavy-chain variable gene mutational status. Cytogenetics for targeted chromosome alterations may similarly aid in predicting outcome and guiding early intervention. This article concisely reviews the utility of commonly performed prognostic markers and addresses the laboratory evaluation in patients with incidentally discovered early stage CLL.
慢性淋巴细胞白血病(CLL)是一种单克隆 B 细胞淋巴增生性疾病,通常表现为惰性临床病程。然而,一些 CLL 患者的疾病进展更为侵袭性,识别该亚组对于早期或更积极的干预可能很重要。此外,在常规实验室评估中经常发现单克隆 B 细胞淋巴细胞增多症,重要的是要将其与明显的 CLL 相区分。此外,由于许多 CLL 患者是偶然发现的,并且在疾病进展之前没有明显的症状,因此预后实验室评估可能会随着治疗选择取代旧的观察等待策略而变得越来越有效。如果它能正确识别出处于高风险克隆进化和/或对化疗免疫治疗耐药的早期 CLL 患者,那么预后可能尤其关键。实验室研究包括流式细胞术检测表面 CD38 和细胞内 ZAP-70 的表达、血清β2-微球蛋白和免疫球蛋白重链可变基因的突变状态。针对靶向染色体改变的细胞遗传学也有助于预测预后和指导早期干预。本文简要回顾了常用预后标志物的实用性,并讨论了偶然发现的早期 CLL 患者的实验室评估。