Supplementary Material for: Integrated Analysis of Gene Copy Number, Copy Neutral LOH, and microRNA Profiles in Adult Acute Lymphoblastic Leukemia

We adopted an integrated analysis of gene copy number alterations (CNAs), copy number neutral loss of heterozygosity (CNN LOH), and microRNA (miRNA) profiling in 21 adult acute lymphoblastic leukemia (ALL) patients. This study revealed the most frequent CNAs to be at chromosomes 9p, 7, and 17 and recurrent CNN LOH at 5p, 9p, and Xq. As for the most differentially expressed miRNAs, they included 8 upregulated and 14 downregulated miRNAs, of which miR-148a at 7p15.2, miR-22 at 17p13.3, miR-223 at Xq12, as well as miR-101-2 at 9p24.1 exhibited recurrent CNAs or CNN LOH. miR-101-2 was recurrently downregulated, and although the related CNN LOH was detected only in <i>BCR-ABL1</i> negative cases (2/14), deletions of miR-101-2 were observed solely in <i>BCR-ABL1</i> positive cases (4/7). Finally, <i>BCR-ABL1</i> positive cases, in contrast to negative ones, were characterized by slightly, but still significantly, higher expression levels of miR-29b.

本研究对21例成人急性淋巴细胞白血病（acute lymphoblastic leukemia, ALL）患者的基因拷贝数变异（gene copy number alterations, CNAs）、拷贝数中性杂合性缺失（copy number neutral loss of heterozygosity, CNN LOH）以及微小RNA（microRNA, miRNA）表达谱开展了整合分析。研究结果显示，最常见的CNAs发生于9号染色体短臂、7号染色体及17号染色体；复发性CNN LOH则集中于5号染色体短臂、9号染色体短臂及X染色体长臂。在差异表达的miRNA中，共包含8种上调miRNA与14种下调miRNA，其中定位于7p15.2区域的miR-148a、17p13.3区域的miR-22、Xq12区域的miR-223以及9p24.1区域的miR-101-2均存在复发性CNAs或CNN LOH。miR-101-2呈现复发性下调特征，尽管其相关CNN LOH仅在BCR-ABL1阴性病例中被检出（2/14），但miR-101-2的缺失仅见于BCR-ABL1阳性病例（4/7）。最终分析发现，与BCR-ABL1阴性病例相比，BCR-ABL1阳性病例的miR-29b表达水平虽略有升高，但差异仍具有统计学意义。