Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans
Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans
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DOI：
10.1016/s0002-9440(10)63593-6
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发表时间：
2003-12-01
影响因子：
6
通讯作者：
van de Rijn, M
中科院分区：
文献类型：
--
作者：
Linn, SC;West, RB;van de Rijn, M
隆突性皮肤纤维肉瘤(DFSP)是一种侵袭性梭形细胞肿瘤。它与染色体易位t(17：22)有关，该易位融合了COL1A1和PDGFbeta基因。我们确定了DFSP的特征基因表达谱，并通过基于阵列的比较基因组杂交(ARRAGE CGH)表征了DFSP中DNA拷贝数的变化。对新鲜冰冻、福尔马林固定、石蜡包埋的DFSP标本进行基因芯片CGH分析(4例)和整体基因表达芯片分析(9例)。根据其基因表达模式，这9个DFSP很容易与其他27个不同的软组织肿瘤区分开来。在DFSP中典型表达的基因包括PDGFbeta及其受体、PDGFRb、APOD、MEOX1、PLA2R和PRKCA。从冰冻肿瘤样本或石蜡切片中提取的DNA阵列CGH也产生了相同的结果。在DFSP中扩增出了分别以COL1A1和PDGFbeta为边界的17q和22q染色体的大片区域。扩增区域的基因表达显著增强。我们的数据表明：1)DFSP具有独特的基因表达谱；2)阵列CGH可以成功地应用于冷冻或福尔马林固定的石蜡包埋的肿瘤标本；3)分别由COL1A1和PDGFbeta基因划分的17q和22q染色体序列的特征扩增与扩增基因的表达上调相关。
Dermatofibrosarcoma protuberans (DFSP) is an aggressive spindle cell neoplasm. it is associated with the chromosomal translocation, t(17:22), which fuses the COL1A1 and PDGFbeta genes. We determined the characteristic gene expression profile of DFSP and characterized DNA copy number changes in DFSP by array-based comparative genomic hybridization (array CGH). Fresh frozen and formalin-fixed, paraffin-embedded samples of DFSP were analyzed by array CGH (four cases) and DNA microarray analysis of global gene expression (nine cases). The nine DFSPs were readily distinguished from 27 other diverse soft tissue tumors based on their gene expression patterns. Genes characteristically expressed in the DFSPs included PDGFbeta and its receptor, PDGFRB, APOD, MEOX1, PLA2R, and PRKCA. Array CGH of DNA extracted either from frozen tumor samples or from paraffin blocks yielded equivalent results. Large areas of chromosomes 17q and 22q, bounded by COL1A1 and PDGFbeta, respectively, were amplified in DFSP. Expression of genes in the amplified regions was significantly elevated. Our data shows that: 1) DFSP has a distinctive gene expression profile; 2) array CGH can be applied successfully to frozen or formalin-fixed, paraffin-embedded tumor samples; 3) a characteristic amplification of sequences from chromosomes 17q and 22q, demarcated by the COL1A1 and PDGFbeta genes, respectively, was associated with elevated expression of the amplified genes.