Whole genome sequencing study based on 84 pediatric B-cell precursor acute lymphoblastic leukemia

This whole genome sequencing (WGS) study is based on 84 pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL) patients diagnosed and treated at the Department of Pediatrics, Skåne University Hospital. The BCP ALL cases belong to the genetic subtypes high hyperdiploidy (HeH; <i>n</i> = 23), <i>ETV6</i>::<i>RUNX1</i> (<i>n</i> = 23), <i>TCF3</i>::<i>PBX1</i> (<i>n</i> = 9), and B-other (<i>n</i> = 29). The BCP ALL diagnostic and remission samples were sequenced at a “target sequencing dept” of 60x and 30x, respectively. The WGS data has been used to identify single nucleotide variants (SNVs) and insertions/deletions (indels) in coding and non-coding regions as well as structural variants (SVs), and copy number abnormalities (CNAs) targeting single genes or potentially causing fusion genes.<br><br>

本项全基因组测序（WGS）研究的对象为斯科讷大学医院儿科确诊并收治的84例儿童B细胞前体急性淋巴细胞白血病（B-cell precursor acute lymphoblastic leukemia, BCP ALL）患者。该类BCP ALL病例的遗传亚型包括高异倍体型（HeH；n=23）、ETV6-RUNX1融合型（n=23）、TCF3-PBX1融合型（n=9）以及B细胞其他型（n=29）。

该研究中BCP ALL的诊断样本与缓解样本的测序深度分别为60×与30×。本研究利用上述WGS数据，鉴定了编码区与非编码区的单核苷酸变异（SNVs）、插入/缺失（indels），以及结构变异（SVs）与拷贝数异常（CNAs），这些变异可靶向单个基因或潜在引发融合基因的形成。