Genome-wide copy number and allele-specific copy number analysis of choroid plexus tumors (I)

Copy number analysis was performed using genotyping microarrays for 55 choroid plexus tumors. Genomic aberrations were investigated by tumor histological classification and the pattern observed in each subgroup was further refined. Allele specific copy number analysis also allowed us to identify regions of acquired uniparental disomy with neutral copy number values. Fifty-five choroid plexus tumors (23 choroid plexus carcinomas, 23 choroid plexus papillomas, 9 atypical choroid plexus papillomas) were used in this study. These samples were inspected for hybridization quality. No replicates were included.

本研究针对55例脉络丛肿瘤（choroid plexus tumors），采用基因分型微阵列（genotyping microarrays）开展拷贝数分析。通过肿瘤组织学分类对基因组畸变（genomic aberrations）进行探究，并进一步细化各亚组中观察到的畸变模式。等位基因特异性拷贝数分析（allele specific copy number analysis）还可帮助我们鉴定出拷贝数呈中性的获得性单亲二体（acquired uniparental disomy）区域。本研究共纳入55例脉络丛肿瘤，其中包括23例脉络丛癌（choroid plexus carcinomas）、23例脉络丛乳头状瘤（choroid plexus papillomas）以及9例非典型脉络丛乳头状瘤（atypical choroid plexus papillomas）。对所有样本的杂交质量（hybridization quality）进行了检测，且未纳入重复样本。