Clinicopathological features and global genomic copy number alterations of pilomyxoid astrocytoma in the hypothalamus/optic pathway: comparative analysis with pilocytic astrocytoma using array-based comparative genomic hybridization
Clinicopathological features and global genomic copy number alterations of pilomyxoid astrocytoma in the hypothalamus/optic pathway: comparative analysis with pilocytic astrocytoma using array-based comparative genomic hybridization
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DOI：
10.1038/modpathol.2008.88
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发表时间：
2008-11-01
期刊：
影响因子：
7.5
通讯作者：
Park, Sung-Hye
中科院分区：
文献类型：
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作者：
Jeon, Yoon-Kyung;Cheon, Jung-Eun;Park, Sung-Hye
毛细胞性星形细胞瘤是新近发现的毛细胞性星形细胞瘤的变异型。我们研究了11例局限性星形细胞瘤(5例)或弥漫性(6例)毛细胞星形细胞瘤，并与17例儿童下丘脑/交叉区域毛细胞性星形细胞瘤进行了比较。在一位患者中，初次手术后复发的肿瘤已经从单纯的毛发粘液样星形细胞瘤转变为混合型。毛粘液区的存在与较短的生存期有关。接下来，我们通过基于阵列的比较基因组杂交，比较了毛细胞星形细胞瘤(n=4)和毛细胞性星形细胞瘤(n=6)的基因组总拷贝数变化。毛细胞型星形细胞瘤中丢失的克隆数多于毛细胞型星形细胞瘤。位于染色体8q24.3的克隆常见于毛细胞性星形细胞瘤(4/6)和毛粘液性星形细胞瘤(1/4)。位于9p24.3和15q26.3的克隆在所有毛细胞样星形细胞瘤和5例毛细胞性星形细胞瘤中均丢失。在8p23.3中，3例毛细胞样星形细胞瘤和4例毛细胞性星形细胞瘤均有拷贝数丢失。毛细胞型星形细胞瘤和毛细胞型星形细胞瘤中有47个克隆(3.6%)拷贝数变化频率有显著差异，其中位于2p的克隆20个，位于2q的克隆10个，位于3q的克隆11个。无监督的分级聚类分析将病例分为三组：一组毛细胞性星形细胞瘤患者，两名毛细胞型星形细胞瘤患者，以及六名毛细胞性星形细胞瘤患者和一名毛细胞性星形细胞瘤患者。综上所述，混合型毛细胞样星形细胞瘤的存在，在纯型毛细胞样星形细胞瘤复发的肿瘤中获得毛细胞性星形细胞瘤的特征，以及上述全基因组基因拷贝数分析的结果，提示毛细胞性星形细胞瘤可能是毛细胞性星形细胞瘤的病理和遗传相关的侵袭性变种，具有部分不同的基因改变。
Pilomyxoid astrocytoma is a recently identified variant of pilocytic astrocytoma. We studied 11 circumscribed astrocytomas with focal (n = 5) or diffuse (n = 6) pilomyxoid features and compared them with 17 pilocytic astrocytomas from the hypothalamic/chiasmatic region in children. In one patient, a tumor that recurred after initial surgery had changed from pure-form pilomyxoid astrocytoma to the mixed form. The presence of a pilomyxoid area was associated with shorter survival. Next, we compared the comprehensive genome copy number changes in the pilomyxoid astrocytoma (n = 4) with those in pilocytic astrocytoma (n = 6) cases by array-based comparative genomic hybridization. The number of lost clones was larger in pilomyxoid astrocytoma than in pilocytic astrocytoma. Clones located in chromosome 8q24.3 were frequently gained in pilocytic astrocytoma (four of six) and in pilomyxoid astrocytoma (one of four). Clones located in 9p24.3 and 15q26.3 were lost in all of the pilomyxoid astrocytomas and in five of the pilocytic astrocytomas. Those in 8p23.3 showed a copy number loss in three of the pilomyxoid astrocytomas and four of the pilocytic astrocytomas. The frequency of copy number changes was significantly different between pilomyxoid astrocytoma and pilocytic astrocytoma in 47 (3.6%) clones, 20 of them having been located in 2p, 10 in 2q, and 11 in 3q. An unsupervised hierarchical clustering analysis classified the cases into three clusters: one pilomyxoid astrocytoma patient into one cluster, two pilomyxoid astrocytoma patients into another cluster, and six pilocytic astrocytoma patients and one pilomyxoid astrocytoma patient into the third cluster. In conclusion, the presence of mixed-form pilomyxoid astrocytoma, the acquisition of pilocytic astrocytoma features in a recurrent tumor in pure-form pilomyxoid astrocytoma, and the above results of the genome-wide gene copy number analysis suggest that pilomyxoid astrocytoma might be a pathologically and genetically related, aggressive variant of pilocytic astrocytoma with partially different genetic alterations.