Acute lymphoblastic leukaemia (ALL) is the most common childhood malignancy with the majority of patients being classified as B-cell lineage (B-ALL). The sub-classification of B-ALL is based on genomic architecture. Recent studies have demonstrated the capability of SNP-microarrays to detect genomic changes in B-ALL which cannot be observed by conventional cytogenetic methods. In current clinical trials, B-ALL patients at high risk of relapse are mainly identified by adverse cancer genomics and/or poor response to early therapy. To test the hypothesis that inclusion of SNP-microarrays in frontline diagnostics could more efficiently and accurately identify adverse genomic factors than conventional techniques, we evaluated the Australian high-risk B-ALL cohort enrolled on AIEOP-BFM ALL 2009 study (n = 33). SNP-microarray analysis identified additional aberrations in 97% of patients (32/33) compared to conventional techniques. This changed the genomic risk category of 24% (8/33) of patients. Additionally, 27% (9/33) of patients exhibited a ‘hyperdiploid’ genome, which is generally associated with a good genomic risk and favourable outcomes. An enrichment of IKZF1 deletions was observed with one third of the cohort affected. Our findings suggest the current classification system could be improved and highlights the need to use more sensitive techniques such as SNP-microarray for cytogenomic risk stratification in B-ALL.

急性淋巴细胞性白血病（ALL）是儿童中最常见的恶性肿瘤，大多数患者被分类为B细胞谱系（B-ALL）。B-ALL的子分类基于基因组架构。最近的研究表明，SNP-微阵列检测B-ALL基因组变化的能力无法通过常规细胞遗传学方法观察到。在当前的临床试验中，高复发风险的B-ALL患者主要通过不良的癌症基因组学和/或对早期治疗的不良反应来识别。为了检验这一假设，在前线的诊断包括SNP微阵列的可能更有效，更准确地识别不良基因因素，而不是传统的技术，我们评估了澳大利亚高风险的B-ALL队列上AIEOP-BFM 2009年所有研究纳入（ñ = 33）。与传统技术相比，SNP微阵列分析在97％的患者中（32/33）发现了额外的像差。这改变了24％（8/33）患者的基因组风险类别。此外，27％（9/33）的患者表现出“超二倍体”基因组，通常与良好的基因组风险和良好的预后相关。的富集IKZF1与受影响的人群的三分之一观察到的缺失。我们的研究结果表明，当前的分类系统可能会得到改善，并突出显示了使用更敏感的技术（例如SNP微阵列）对B-ALL中的细胞基因组风险分层的需求。