Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in KMT2A-rearranged infant acute leukemia

This dataset includes Duplex sequencing and targeted next generation sequencing (NGS) of 20 Infants and 7 Children with acute lymphoblastic leukmia. All patients had an underlying rearrangement of the KMT2A gene, either KMT2A::MLLT3 (n=5), KMT2A::AFF1 (n=12), KMT2A::MLLT1 (n=8) or KMT2A::MLLT10 (n=2). The median age of the cohort was 7 months. Diagnostic sample from peripheral blod (n=11) or bone marrow (n=16) underwent the duplex sequencing library preparation as described in https://doi.org/10.1073/pnas.1208715109 and sequenced on the NextSeq 500 (Illumina, San Diego, CA, USA). A subset of variants were validated by targeted multiplex-PCR followed by NGS. In six patients with available relapse samples, a screening of diagnostic variants was performed by multiplex-PCR and NGS. All targeted sequencing libraries were prepared with Nextera XT DNA Sample Preparation Kit (Illumina) and sequenced on the Illumina MiSeq.本数据集包含20名婴儿与7名儿童急性淋巴细胞白血病（acute lymphoblastic leukemia）样本的双工测序（Duplex sequencing）及靶向下一代测序（next generation sequencing, NGS）数据。 所有患者均存在KMT2A基因潜在易位，具体为KMT2A::MLLT3（n=5）、KMT2A::AFF1（n=12）、KMT2A::MLLT1（n=8）或KMT2A::MLLT10（n=2）。该队列的中位年龄为7个月。 11例外周血与16例骨髓来源的诊断样本，按照https://doi.org/10.1073/pnas.1208715109中描述的方法完成双工测序文库构建，并在NextSeq 500测序仪（Illumina，美国加利福尼亚州圣地亚哥）上进行测序。 部分变异通过靶向多重聚合酶链式反应（multiplex-PCR）联合NGS进行验证。针对6例留存复发样本的患者，采用多重PCR联合NGS对诊断阶段的变异进行筛查。所有靶向测序文库均使用Nextera XT DNA样本制备试剂盒（Illumina）构建，并在Illumina MiSeq测序仪上完成测序。