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The future of laboratory testing in chronic lymphocytic leukaemia

机译:慢性淋巴细胞白血病实验室检测的未来

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摘要

Chronic lymphocytic leukaemia (CLL) is a malignant lymphoproliferative disorder characterised by the accumulation of dysfunctional B-lymphocytes in the blood and lymphoid tissues. It is a clonally complex disease with a high degree of both intra-tumoural and inter-patient heterogeneity. This variability leads to a wide range of clinical outcomes and highlights the critical need for accurate prognostic tests in CLL. With the advent of a range of new targeted agents for CLL in recent years, there is also a clinical need for improved predictive tests to therapy. This review of laboratory testing in CLL focuses on emerging technologies for prognostication including single nucleotide polymorphism microarray for karyotypic analysis, targeted next generation sequencing analysis of the immunoglobulin heavy chain variable region gene as well as genes recurrently mutated in the disease such as TP53, and detection of minimal residual disease.
机译:慢性淋巴细胞白血病(CLL)是一种恶性淋巴增生性疾病,其特征是血液和淋巴组织中聚集功能失调的B淋巴细胞。它是一种克隆性复杂疾病,具有高度的肿瘤内和患者间异质性。这种变异性导致了广泛的临床结果,并强调了对CLL准确预后测试的关键需求。近年来,随着一系列新的CLL靶向药物的出现,临床上也需要改进对治疗的预测测试。这篇关于CLL实验室检测的综述侧重于新兴的预测技术,包括用于核型分析的单核苷酸多态性微阵列、免疫球蛋白重链可变区基因以及疾病中反复突变的基因(如TP53)的靶向下一代测序分析,以及微小残留疾病的检测。

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