Clinical management and risk stratification of B-lymphoblastic leukemia/ lymphoma (B-ALL/LBL) depend largely on identification of chromosomal abnormalities obtained using conventional cytogenetics and Fluorescence In Situ Hybridization (FISH) testing. In the last few decades, testing algorithms have been implemented to support an optimal risk-oriented therapy, leading to a large improvement in overall survival. In addition, large scale genomic studies have identified multiple aberrations of prognostic significance that are not routinely tested by existing modalities. However, as chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) technologies are increasingly used in clinical management of hematologic malignancies, these abnormalities may be more readily detected. In this article, we have compiled a comprehensive, evidence-based review of the current B-ALL literature, focusing on known and published subtypes described to date. More specifically, we describe the role of various testing modalities in the diagnosis, prognosis, and therapeutic relevance. In addition, we propose a testing algorithm aimed at assisting laboratories in the most effective detection of the underlying genomic abnormalities.

B淋巴细胞白血病/淋巴瘤（B-ALL / LBL）的临床管理和风险分层在很大程度上取决于对使用常规细胞遗传学和原位荧光检测所获得的染色体异常的鉴定杂交（FISH）测试。在过去的几十年中，已经实施了测试算法以支持最佳的面向风险的疗法，从而大大提高了总体生存率。此外，大规模的基因组研究已经确定了多种预后意义的畸变，而这些畸变是现有模式无法常规检测的。但是，随着染色体微阵列分析（CMA）和下一代测序（NGS）技术越来越多地用于血液系统恶性肿瘤的临床管理中，这些异常现象可能更容易被发现。在本文中，我们对当前的B-ALL文献进行了全面的，基于证据的综述，重点是迄今为止描述的已知和已公开的亚型。更具体地说，我们描述了各种测试方式在诊断，预后，和治疗相关性。此外，我们提出了一种旨在协助实验室最有效地检测潜在的基因组异常的测试算法。