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诊断儿科肿瘤的新技术——医学诊断专家意见

New Technologies for Diagnosing Pediatric Tumors Expert Opinion on Medical Diagnostics.

作者信息

Wei Jun S, Badgett Thomas C, Khan Javed

机构信息

Oncogenomic Section, Pediatric Oncology Branch, Advanced Technology Center, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 8717 Grovemont Circle, Bethesda, Maryland 20892-4605, USA.

出版信息

Expert Opin Med Diagn. 2008 Nov 1;2(11):1205-1219. doi: 10.1517/17530059.2.11.1205.

DOI:10.1517/17530059.2.11.1205
PMID:19554203
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2700769/
Abstract

BACKGROUND

The completion of Human Genome Project (HGP) has paved the way for novel, more detailed and accurate molecular diagnostic classification of cancer. With the information from the HGP, cancers can be categorized not only on the morphology or limited immunohistological markers, but according to their "molecular fingerprints" such as gene expression profiles. Technologies detecting these signatures have been developed to simultaneously measure multiple genes or proteins in one assay with high sensitivity and specificity. OBJECTIVE: To evaluate potential innovative novel methods of diagnosis and prognosis in pediatric cancers. METHODS: We selected a variety of promising new diagnostic technologies utilizing molecular signatures which harness the results from HGP including DNA microarray, bead-based detection system, multiplexed RT-PCR, MesoScale Discovery (MSD), and isotope-coded affinity tag (ICAT), as well as their applications in biomarker discovery for pediatric tumors. Label-free detection technologies and the obstacles for taking these new diagnostic technologies from the bench to the bedside are also discussed. CONCLUSION: The use of molecular signatures is gaining acceptance in clinical practice. However, technical challenges need to be addressed before incorporating these new technologies into current diagnostic and prognostic schema.

摘要

背景

人类基因组计划(HGP)的完成,为癌症新型、更详细且准确的分子诊断分类铺平了道路。借助HGP的信息,癌症不仅可以依据形态学或有限的免疫组织化学标志物进行分类,还能根据其“分子指纹”,如基因表达谱来分类。已开发出检测这些特征的技术,能够在一次检测中以高灵敏度和特异性同时测量多个基因或蛋白质。

目的

评估儿科癌症诊断和预后的潜在创新新方法。

方法

我们选择了多种利用分子特征的有前景的新诊断技术,这些技术利用了HGP的成果,包括DNA微阵列、基于微珠的检测系统、多重逆转录聚合酶链反应(RT-PCR)、MesoScale Discovery(MSD)和同位素编码亲和标签(ICAT),以及它们在儿科肿瘤生物标志物发现中的应用。还讨论了无标记检测技术以及将这些新诊断技术从实验室应用到临床所面临的障碍。

结论

分子特征在临床实践中的应用正逐渐得到认可。然而,在将这些新技术纳入当前的诊断和预后模式之前,需要解决技术挑战。