Département d'Oncologie Moléculaire, Institut Paoli-Calmettes, CRCM, UMR1068 Inserm, Marseille, France.
Genes Chromosomes Cancer. 2013 Feb;52(2):156-64. doi: 10.1002/gcc.22015. Epub 2012 Oct 17.
Solitary fibrous tumors (SFTs) are rare spindle cell tumors with limited therapeutic options. Their molecular basis is poorly known. No consistent cytogenetic abnormality has been reported. We used high-resolution whole-genome array-based comparative genomic hybridization (Agilent 244K oligonucleotide chips) to profile 47 samples, meningeal in >75% of cases. Few copy number aberrations (CNAs) were observed. Sixty-eight percent of samples did not show any gene CNA after exclusion of probes located in regions with referenced copy number variation (CNV). Only low-level CNAs were observed. The genomic profiles were very homogeneous among samples. No molecular class was revealed by clustering of DNA copy numbers. All cases displayed a "simplex" profile. No recurrent CNA was identified. Imbalances occurring in >20%, such as the gain of 8p11.23-11.22 region, contained known CNVs. The 13q14.11-13q31.1 region (lost in 4% of cases) was the largest altered region and contained the lowest percentage of genes with referenced CNVs. A total of 425 genes without CNV showed copy number transition in at least one sample, but only but only 1 in at least 10% of samples. The genomic profiles of meningeal and extra-meningeal cases did not show any differences.
孤立性纤维瘤（SFT）是一种罕见的梭形细胞肿瘤，治疗选择有限。其分子基础知之甚少。尚未报道一致的细胞遗传学异常。我们使用高分辨率全基因组基于阵列的比较基因组杂交（Agilent 244K 寡核苷酸芯片）对 47 个样本进行了分析，其中>75%的样本为脑膜来源。观察到的拷贝数异常（CNAs）很少。排除位于参考拷贝数变异（CNV）区域的探针后，68%的样本没有任何基因 CNA。仅观察到低水平的 CNA。样本之间的基因组谱非常相似。聚类 DNA 拷贝数未揭示任何分子类别。所有病例均表现出“单纯”谱。未鉴定出重复 CNA。>20%的不平衡，如 8p11.23-11.22 区域的增益，包含已知的 CNV。13q14.11-13q31.1 区域（4%的病例丢失）是改变最大的区域，包含参考 CNV 的基因百分比最低。总共 425 个没有 CNV 的基因在至少一个样本中发生了拷贝数转换，但只有在至少 10%的样本中才有一个基因发生了转换。脑膜和脑膜外病例的基因组谱没有显示出任何差异。
