Alsiary Rawiah, Brüning-Richardson Anke, Bond Jacquelyn, Morrison Ewan E, Wilkinson Nafisa, Bell Sandra M
Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom.
Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, United Kingdom.
PLoS One. 2014 May 15;9(5):e97059. doi: 10.1371/journal.pone.0097059. eCollection 2014.
Mutations in the MCPH1 (Microcephalin) and ASPM (abnormal spindle-like microcephaly associated) genes cause primary microcephaly. Both are centrosomal associated proteins involved in mitosis. Microcephalin plays an important role in DNA damage response and ASPM is required for correct division of proliferative neuro-epithelial cells of the developing brain. Reduced MCPH1 mRNA expression and ASPM mRNA over-expression have been implicated in the development of human carcinomas. Epithelial ovarian cancer (EOC) is characterised by highly aneuploid tumours. Previously we have reported low Microcephalin and high ASPM protein levels and associations with clinico-pathological parameters in malignant cells from ascitic fluids. To confirm these previous findings on a larger scale Microcephalin and ASPM expression levels and localisations were evaluated by immunohistochemistry in two cohorts; a training set of 25 samples and a validation set of 322 EOC tissue samples. Results were correlated to the associated histopathological data. In normal ovarian tissues the Microcephalin nuclear staining pattern was consistently strong. In the cancer tissues, we identified low nuclear Microcephalin expression in high grade and advanced stage tumours (p<0.0001 and p = 0.0438 respectively). ASPM had moderate to high nuclear and low to moderate cytoplasmic expression in normal tissue. Cytoplasmic ASPM expression decreased with tumour grade and stage in the serous subtype of EOC (p = 0.023 and p = 0.011 respectively). Cytoplasmic ASPM increased with tumour stage in the endometrioid subtype (p = 0.023). Increasing tumour invasiveness (T3) and lymph node involvement (N1) also correlated with a decrease in cytoplasmic ASPM in EOC (p = 0.02 and p = 0.04 respectively). We have validated previous findings of deregulated expression of Microcephalin and ASPM in EOC by confirming associations for low nuclear Microcephalin levels and high cytoplasmic ASPM levels in a larger scale tumour tissue study. Microcephalin and ASPM may prove useful biomarkers in EOC.
MCPH1(小头畸形蛋白)和ASPM(异常纺锤体样小头畸形相关蛋白)基因的突变会导致原发性小头畸形。这两种蛋白都是参与有丝分裂的中心体相关蛋白。小头畸形蛋白在DNA损伤反应中起重要作用,而ASPM是发育中大脑增殖性神经上皮细胞正确分裂所必需的。MCPH1 mRNA表达降低和ASPM mRNA过表达与人类癌症的发生有关。上皮性卵巢癌(EOC)的特征是肿瘤高度非整倍体。此前我们报道过,腹水中恶性细胞中小头畸形蛋白水平低、ASPM蛋白水平高,且与临床病理参数相关。为了在更大规模上证实这些先前的发现,我们通过免疫组织化学在两个队列中评估了小头畸形蛋白和ASPM的表达水平及定位;一个由25个样本组成的训练集和一个由322个EOC组织样本组成的验证集。结果与相关的组织病理学数据相关联。在正常卵巢组织中,小头畸形蛋白的核染色模式始终很强。在癌组织中,我们发现在高级别和晚期肿瘤中核小头畸形蛋白表达较低(分别为p<0.0001和p = 0.0438)。在正常组织中,ASPM在细胞核中有中度至高度表达,在细胞质中有低度至中度表达。在EOC的浆液性亚型中,细胞质ASPM表达随肿瘤分级和分期降低(分别为p = 0.023和p = 0.011)。在子宫内膜样亚型中,细胞质ASPM随肿瘤分期增加(p = 0.023)。肿瘤侵袭性增加(T3)和淋巴结受累(N1)也与EOC中细胞质ASPM减少相关(分别为p = 0.02和p = 0.04)。通过在更大规模的肿瘤组织研究中确认低核小头畸形蛋白水平和高细胞质ASPM水平之间的关联,我们验证了先前关于EOC中小头畸形蛋白和ASPM表达失调的发现。小头畸形蛋白和ASPM可能是EOC中有用的生物标志物。