Single base substitution and insertion/deletion mutational signatures in adult core binding factor acute myeloid leukemia

Paired diagnostic and remission samples from 20 adults with core binding factor acute myeloid leukemia (AML), comprising ten with t(8;21)(q22;q22) [RUNX1::RUNX1T1] and ten with inv(16)(p13q22)/t(16;16)(p13;q22) [CBFB::MYH11] analyzed by whole genome sequencing are included in this data set. All patients had de novo AML and the cases were selected based on the availability of good quality DNA from both diagnosis and remission. The median age of the patients was 51.5 years (range 19-74 years) and the female/male ratio was 1:1.5. the Declaration of Helsinki. DNA was extracted from diagnostic and remission bone marrow aspirates and sequencing libraries were constructed using the TruSeq PCR-Free DNA Library Preparation Kit (Illumina, San Diego, CA, USA) followed by cluster generation and 150 cycles paired-end sequencing with the NovaSeq 6000 system and v1.5 sequencing chemistry (Illumina) at the SNP&SEQ Technology Platform, Uppsala University. The data has been used for detection/investigation of single nucleotide variants, mutational signatures, fusion genes and copy number aberrations.本数据集纳入20例成人核心结合因子型急性髓系白血病（core binding factor acute myeloid leukemia, AML）患者的配对诊断与缓解样本，其中10例携带t(8;21)(q22;q22)[RUNX1::RUNX1T1]易位，10例携带inv(16)(p13q22)/t(16;16)(p13;q22)[CBFB::MYH11]染色体异常，所有样本均通过全基因组测序（whole genome sequencing）完成分析。所有患者均为原发急性髓系白血病（de novo AML），病例筛选标准为可同时获取诊断时期与缓解时期的高质量DNA样本。患者中位年龄为51.5岁，年龄范围19~74岁，男女比例为1:1.5，本研究符合《赫尔辛基宣言》相关伦理规范。研究人员从诊断及缓解时期的骨髓穿刺液中提取基因组DNA，采用TruSeq无PCR DNA文库制备试剂盒（Illumina，美国加利福尼亚州圣地亚哥市）构建测序文库，随后在乌普萨拉大学SNP&SEQ技术平台使用NovaSeq 6000测序系统及v1.5测序化学试剂完成簇生成与150个循环的双端测序。本数据集已被应用于单核苷酸变异、突变特征、融合基因及拷贝数异常的检测与相关研究。