Scheie D, Cvancarova M, Mørk S, Skullerud K, Andresen P A, Benestad I, Helseth E, Meling T, Beiske K
Division of Pathology, Rikshospitalet University Hospital, Oslo, Norway.
Histopathology. 2008 Nov;53(5):578-87. doi: 10.1111/j.1365-2559.2008.03160.x.
To investigate the relationship between phenotype and genotype in oligodendroglial tumours and evaluate whether 1p/19q status can be reliably predicted from histological findings.
Three neuropathologists reviewed the association between 10 histological variables, location and genetic losses at 1p, 19q and 17p13 in 63 oligodendroglial tumours (cohort 1). Based on these findings, a multiple logistic regression model for prediction of 1p/19q status was constructed. The ability of this model to predict 1p/19q status was tested on cohort 2, comprising 20 oligodendroglial tumours. Loss of heterozygosity at 1p, 19q and 17p13 was analysed using polymerase chain reaction. Combined 1p/19q loss and losses at 17p13 were mutually exclusive (P < 0.001). The variable H1a (more or <50% of cells with round, uniform nuclei and perinuclear halos) demonstrated the strongest association with 1p/19q status (odds ratio 11.9, 95% confidence interval 3.6, 39.6, P < 0.001). Calcifications, absence of gemistocytic cells and a non-temporal/non-insular location were also associated. The correct 1p/19q status was predicted in 80% of cases in cohort 2.
There is a strong association between phenotype and genotype in oligodendroglial tumours. However, even when all significant variables are accounted for, perfect prediction (100%) of 1p/19q status cannot be obtained.
研究少突胶质细胞瘤的表型与基因型之间的关系,并评估能否根据组织学结果可靠地预测1p/19q状态。
三位神经病理学家回顾了63例少突胶质细胞瘤(队列1)中10个组织学变量、位置以及1p、19q和17p13基因缺失之间的关联。基于这些发现,构建了一个预测1p/19q状态的多元逻辑回归模型。该模型预测1p/19q状态的能力在由20例少突胶质细胞瘤组成的队列2中进行了测试。使用聚合酶链反应分析1p、19q和17p13的杂合性缺失。1p/19q联合缺失和17p13缺失相互排斥(P<0.001)。变量H1a(圆形、均匀核及核周晕的细胞占比>或<50%)与1p/19q状态的关联最强(优势比11.9,95%置信区间3.6,39.6,P<0.001)。钙化、无肥胖型星形细胞以及非颞叶/非岛叶位置也与之相关。队列2中80%的病例正确预测了1p/19q状态。
少突胶质细胞瘤的表型与基因型之间存在很强的关联。然而,即使考虑了所有显著变量,也无法获得对1p/19q状态的完美预测(100%)。