Bigner S H, McLendon R E, Fuchs H, McKeever P E, Friedman H S
Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.
Cancer Genet Cytogenet. 1997 Sep;97(2):125-34. doi: 10.1016/s0165-4608(96)00404-9.
In the present cytogenetic analysis of 116 pediatric brain tumors, chromosomal abnormalities were demonstrated in 44 cases, 48 cases revealed only 46,XX or 46,XY cells, and 24 cases were nonproductive. In contrast to studies of adult brain tumors in which isolated loss of one X or the Y chromosome is often encountered, 45,X,-X and 45,X-Y stemlines or sidelines were not observed in this series of childhood tumors. Among the 17 medulloblastomas with cytogenetic abnormalities, chromosome 1 was most frequently affected by structural deviations; the most prevalent specific alteration (7 of 17 tumors) was loss of 17p, through i(17)(q10) or unbalanced translocation. The majority of low grade astrocytomas had normal stemlines, although one pilocytic astrocytoma and one cerebellar astrocytoma had frequent telomeric associations and a second pilocytic astrocytoma had a clone with trisomy 11. Thirteen of 19 high-grade and recurrent astrocytic tumors had abnormal stemlines that were approximately equally divided among cases with chromosomal counts in the near-diploid, hyperdiploid, and near-triploid-tetraploid ranges. Although no consistent abnormalities were observed, subsets of cases had structural abnormalities of chromosome 3, 7q, 9q, or 17p. The cases of childhood brain tumors described here demonstrate that 45,X,-X, and 45,X,-Y stemlines or sidelines are rare in these tumors and confirm frequent loss of 17p in medulloblastomas. High-grade astrocytic tumors in children frequently have abnormal stemlines, often in the hyperdiploid and polyploid ranges, and they differ from high-grade gliomas in the adult by lacking consistent numerical and structural deviations.
在对116例儿童脑肿瘤进行的细胞遗传学分析中,44例显示出染色体异常,48例仅发现46,XX或46,XY细胞,24例未得出有效结果。与成人脑肿瘤研究中经常遇到的一条X或Y染色体单独缺失不同,在这一系列儿童肿瘤中未观察到45,X,-X和45,X-Y主干系或旁系。在17例有细胞遗传学异常的髓母细胞瘤中,1号染色体最常受到结构偏差的影响;最常见的特异性改变(17例肿瘤中的7例)是通过i(17)(q10)或不平衡易位导致17p缺失。大多数低级别星形细胞瘤的主干系正常,尽管1例毛细胞型星形细胞瘤和1例小脑星形细胞瘤有频繁的端粒联合,另一例毛细胞型星形细胞瘤有一个11三体克隆。19例高级别和复发性星形细胞肿瘤中有13例主干系异常,在染色体计数接近二倍体、超二倍体以及接近三倍体-四倍体范围的病例中大致平分。尽管未观察到一致的异常情况,但部分病例存在3号、7q、9q或17p染色体的结构异常。此处描述的儿童脑肿瘤病例表明,45,X,-X和45,X,-Y主干系或旁系在这些肿瘤中很少见,并证实了髓母细胞瘤中17p的频繁缺失。儿童高级别星形细胞肿瘤经常有异常主干系,通常在超二倍体和多倍体范围内,并且它们与成人高级别胶质瘤的不同之处在于缺乏一致的数量和结构偏差。