Abstract：
Cytogenetic analysis is mandatory at initial assessment of B-cell acute lymphoblastic leukemia (B-ALL) due to its diagnostic and prognostic value. Results from chromosome banding analysis and complementary FISH are taken into account in therapeutic protocols and further completed by other techniques (RT-PCR, SNP-array, MLPA, NGS, OGM). Indeed, new genomic entities have been identified by NGS, mostly RNA sequencing, such as Ph-like ALL that can benefit from targeted therapy. Here, we have attempted to establish cytogenetic guidelines by reviewing the most recent published data including the novel 5th World Health Organization and International Consensus Classifications. We also focused on newly described cytogenomic entities and indicate alternative diagnostic tools such as NGS technology, as its importance is vastly increasing in the diagnostic setting.
摘要：
由于其诊断和预后价值，细胞遗传学分析在B细胞急性淋巴细胞白血病（B-ALL）的初始评估中是强制性的。在治疗方案中考虑了染色体条带分析和互补FISH的结果，并通过其他技术（RT-PCR，SNP阵列，MLPA，NGS,OGM）。的确,NGS鉴定了新的基因组实体，主要是RNA测序，例如Ph样ALL，可以从靶向治疗中受益。这里,我们试图通过审查最新发表的数据,包括新的第5次世界卫生组织和国际共识分类,建立细胞遗传学指南.我们还专注于新描述的细胞基因组实体，并指出替代诊断工具，如NGS技术，因为它的重要性在诊断环境中大大增加。
