【作者】 王小平； 杨修；

【机构】 厦门市中医院；

【摘要】 目的揭示髓母细胞瘤中存在的染色体畸变特点及不同病理亚型之间基因组失衡的规律及差异性。方法挑选出10个典型髓母细胞瘤的石蜡样本(每个亚型2个样本),通过显微切割选取最佳组织区域,提取标本DNA后,进行微阵列-比较基因组杂交实验。结果 (1)髓母细胞瘤染色体畸变主要有8p、9p、9q,10q、17p的缺失和7q、8q、17q的扩增。(2)不同病理亚型之间基因组失衡的规律及差异性:①9号染色体和17号染色的在所有的病理亚型中均可见到改变;②1p的缺失仅存在于CMB中,而5p的缺失仅存在于ENMB中,可能预示患者的预后较好;16q的缺失仅存在于AMB中,而13q的获得仅存在于LCMB中,可能预示患者预后不佳。结论髓母细胞瘤五个不同的病理亚型,其临床特点、生物学特性和预后不同,肿瘤存在明显的异质性特点。更多还原

【Abstract】 Objective Reveals characteristics of chromosomal aberrations in medulloblastoma.Revea law and differences of genomic imbalances between different histological subtypes in medulloblastoma.Methods We selected 10 typical paraffin samples(two of each subtype) of MBs cases in Beijing Tiantan Hospital from January 2000 to December 2010,according with the classification criteria of 2007 WHO medulloblastoma,and combined with the history characteristics,neuroimaging data,immunohistochemical staining,and Reticulin dyeing method.Using microdissection to select the best organization area,extract the DNA,and then conducting array-comparative genomic hybridization(array-CGH) experiments.Results(1) The dominating chromosomal aberrations in medulloblastoma are the loss of 8 p,9 p,9 q,10 q,17 p and the gain of 7 q,8 q,17 q.(2) The law and difference of the genomic imbalances between the different histological subtypes:①Chromosome 9 and 17 can be seen to change in all histological subtypes;②The 1 p loss only existed in the CMB,while the 5 p deletion existed only in the ENMB,what might indicate good prognosis in patients;16 q absence only existed in the AMB,while 13 q gain existed only in the LCMB,what might indicate poor prognosis in patients.Conclusions The clinical features,biologica characteristics and prognosis were different in five different histological subtypes of medulloblastoma.And there were visible tumor heterogeneity characteristics.更多还原