568例少突胶质细胞肿瘤中染色体1p/19q缺失和多体特点分析

Characteristics of 1p/19q loss of heterozygous and 1q/19p polysomy status in 568 oligodendroglial tumors

目的研究少突胶质细胞肿瘤1p/19q缺失及1q/19p多倍体状态与肿瘤病理分型及肿瘤部位的关系。方法应用荧光原位杂交方法(fluorescence in situ hybridization,FISH)对2012年1月至2014年12月患者石蜡包埋组织切片染色,进行1p/19q缺失和1q/19p多体分析,分析其与肿瘤部位、病理分型及分级的关系。结果在568例胶质瘤患者中,年龄为3~76岁,中位年龄42岁,男女比例1.5:1。肿瘤位于额叶249例,颞叶68例,顶叶14例,累及2个以上部位166例,丘脑30例,其他部位41例。1p缺失者74例,19q缺失者39例,联合缺失者192例,无缺失者263例。1p染色体多体30例,19q多体32例,1p/19q均为多体者55例,均无多体表现者451例。少突胶质细胞瘤染色体lp/19q联合缺失达67.4%,间变性少突胶质细胞瘤约为64.7%,少突星形细胞瘤约为38.3%,间变性少突星形细胞瘤为19.2%,含有少突胶质细胞瘤成分的胶质母细胞瘤为5.2%。在少突胶质细胞瘤和间变性少突胶质细胞瘤中,1p/19q联合缺失率及1p或19q的单独缺失均显著高于少突星形细胞瘤和间变性少突星形细胞瘤,差异有显著性(P<0.01);1p/19q联合缺失率在少突星形细胞瘤和间变性少突星形细胞瘤中明显高于含少突胶质细胞瘤成分的胶质母细胞瘤,差异有显著性(P<0.01)。1q/19p多体率在不同的肿瘤类型中差异有显著性(P=0.019),1q/19p多体率与肿瘤部位无关(P>0.05)。结论检测1p/19q杂合性缺失状态有助于胶质瘤的病理分型,有助于少突胶质细胞肿瘤与混合性少突-星形细胞肿瘤的鉴别诊断。

Objective To investigate the status of loss of heterozygosity（LOH） of 1p/19 q in 568 oligodendroglial tumors. Method 568 paraffin embedded tumor tissues from January 2012 to December 2014 were evaluated by fluorescence in situ hybridization（FISH）. The relationship among LOH of 1p/19 q, status of chromosome polysomy, brain sub-regions and pathological classification of the tumor were analyzed. Result The onset age were from 3-76 years old, the ratio of male to female was 1.5：1. The frequencies of combined LOH of 1p and 19 q of oligodendroglioma（67.4%） and anaplastic oligodendroglioma（64.7%） were significantly higher than that of oligoastrocytoma（38.3%） and anaplastic oligoastrocytoma（19.2%）, and even more higher than glioblastoma with oligodendroglioma component（5.2%）（P〈0.01）. There were also differences in the rate of 1q/19 p polysomy in different tumor types（P=0.019）, and the rate of 1q/19 p was not related to the tumor location（P〉0.05）. Conclusion Detection of 1p/19 q LOH can contribute to the pathological classification of glioma, and it is helpful for the differential diagnosis of the tumor of the mixed type.