Human adenoid cystic carcinoma vs. human normal lymphocyte. Homo sapiens

We analyzed ten adenoid cystic carcinomas of head and neck by array-based comparative genomic hybridization (a-CGH) using DNA chips spotted 4,030 BAC clones. After data smoothing by the adaptive weights smoothing (AWS) procedure with the gain and loss analysis of DNA (GLAD) algorithm, a total of 89 DNA copy number aberrations (DSCNAs) were detected. The frequent (≥30%) DSCNAs were loss of 6q24, 6q25, 8p23, 6q25, and 6q23 and gains of 6q23, 8p23, 9p11-13, and 22q13. High-level gain was detected on 12q12-15 including MDM2 in two cases. These two cases showed immunohistochemically positive status of MDM2 and negative status of p53 and p21. Furthermore, the total number of DSCNAs was significantly greater in ACC with loss of 6q than in other ACC, in ACC without loss of 8p23 than in other ACC, and in ACC with 8p23 gain than in ACC with 8p23 loss, respectively. Though there is a limit in the evidence, a-CGH detected several candidate chromosomal imbalances associated with DSCNA accumulation in ACC. 6q loss, 12q gain Overall design: aCGH DNA copy number aberrations screening in human cancer adenoid cystic carcinoma (ACC).

本研究采用点印有4030个细菌人工染色体（BAC clones）克隆的DNA芯片，通过基于阵列的比较基因组杂交（array-based comparative genomic hybridization, a-CGH）技术，对10例头颈部腺样囊性癌（adenoid cystic carcinoma, ACC）样本开展分析。经自适应权重平滑（adaptive weights smoothing, AWS）流程结合DNA得失分析（gain and loss analysis of DNA, GLAD）算法完成数据平滑处理后，共检测到89个DNA拷贝数变异（DNA copy number aberrations, DSCNAs）。频率≥30%的DSCNAs包括染色体区域缺失：6q24、6q25、8p23、6q25、6q23，以及染色体区域扩增：6q23、8p23、9p11-13、22q13。在2例样本中检测到包含MDM2基因的12q12-15区域发生高水平扩增；该2例样本经免疫组织化学检测显示MDM2呈阳性，p53与p21呈阴性。进一步分析显示，相较于其他ACC样本，发生6q区域缺失的ACC样本、未发生8p23区域缺失的ACC样本，以及发生8p23区域扩增的ACC样本，其DSCNAs总数均显著更高。尽管本研究的证据存在一定局限性，但a-CGH技术已检测出数项与ACC中DSCNAs积累相关的候选染色体失衡事件，涵盖6q缺失与12q扩增。整体实验设计：在人类癌症腺样囊性癌（ACC）中开展aCGH DNA拷贝数变异筛查。