英国科学家近日鉴别出了三个与室鼓膜瘤（ependymoma，儿童脑癌的常见形式）有关的基因。这一研究对室鼓膜瘤遗传学提出了更详细的理解，并将有助科学家开发出更有效的、副作用更少的药物。相关论文发表在《英国癌症杂志》（British Journal of Cancer）上。
研究人员分析了室鼓膜瘤基因组范围的表达模式，鉴别出了三种具有独特特征的基因，并在74个室鼓膜瘤样本中证实了这些基因的存在。研究人员发现，基因SI00A4与幼儿的肿瘤强烈相关，基因SI00A6是大脑特殊部位肿瘤的标记，而高水平的基因CHI3L1则在细胞大量死亡的癌症中很常见。
这些基因全部位于1号染色体的某个区域，研究小组之前曾认为这个区域与室鼓膜瘤的低存活率相关。
论文通讯作者、英国诺丁汉大学儿童脑瘤研究中心的Richard Grundy说：“理解癌症的生物学原因极为重要，它将帮助我们开发出药物标靶癌细胞中的反常基因，而非健康细胞，这正是传统化疗所做的。更精确的标靶治疗将比传统的化疗更为有效，且更少副作用。所以说这是一个重要的发现，我们希望它有助产生室鼓膜瘤新的治疗手段。”
英国癌症研究基金会临床试验主任Kate Law认为：“我们对于儿童癌症的成因了解的相对较少，所以这是一项重要的研究。儿童癌症的全部存活率正在大幅提升，这要部分感谢国际临床试验，不过进行此次这样的研究以进一步改善治疗也是至关重要的。（生物谷Bioon.com）
生物谷推荐原始出处：
British Journal of Cancer，doi: 10.1038/sj.bjc.6604651，V Rand，R G Grundy
Investigation of chromosome 1q reveals differential expression of members of the S100 family in clinical subgroups of intracranial paediatric ependymoma
V Rand1, E Prebble2, L Ridley1, M Howard1, W Wei3, M-A Brundler4, B E Fee5, G J Riggins6, B Coyle1 and R G Grundy1 on behalf of the Children's Cancer and Leukaemia Group Biological Studies Committee
1Children's Brain Tumour Research Centre, University of Nottingham, Nottingham, NG7 2UH, UK
2West Midlands Regional Genetics Lab, BWH, Birmingham, B15 2TG, UK
3Cancer Research UK Institute for Cancer Studies, University of Birmingham, Birmingham, B15 2TT, UK
4Department of Pathology, Birmingham Children's Hospital, Birmingham, B4 6NH, UK
5Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
6Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
Gain of 1q is one of the most common alterations in cancer and has been associated with adverse clinical behaviour in ependymoma. The aim of this study was to investigate this region to gain insight into the role of 1q genes in intracranial paediatric ependymoma. To address this issue we generated profiles of eleven ependymoma, including two relapse pairs and seven primary tumours, using comparative genome hybridisation and serial analysis of gene expression. Analysis of 656 SAGE tags mapping to 1q identified CHI3L1 and S100A10 as the most upregulated genes in the relapse pair withde novo 1q gain upon recurrence. Moreover, three more members of the S100 family had distinct gene expression profiles in ependymoma. Candidates (CHI3L1, S100A10, S100A4, S100A6 and S100A2) were validated using immunohistochemistry on a tissue microarray of 74 paediatric ependymoma. In necrotic cases, CHI3L1 demonstrated a distinct staining pattern in tumour cells adjacent to the areas of necrosis. S100A6 significantly correlated with supratentorial tumours (P<0.001) and S100A4 with patients under the age of 3 years at diagnosis (P=0.038). In conclusion, this study provides evidence that S100A6 and S100A4 are differentially expressed in clinically relevant subgroups, and also demonstrates a link between CHI3L1 protein expression and necrosis in intracranial paediatric ependymoma.
