Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, OH 43210, USA.
Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):451-60. doi: 10.1016/j.beem.2010.01.004.
Since the onset of the genomic era, there has been tremendous progress in identifying the genetic causes of endocrine tumours. Although this knowledge is valuable in its own right, understanding the molecular basis of tumourigenesis allows the development of new therapies targeted at the causative defects. Understanding the connection between genotype and phenotype is a complex process, which can only be partially understood from the analysis of primary tumours or from the studies of cells in vitro. To bridge this gap, genetically modified mice have been developed to allow molecular dissection of the relevant defects in an intact organism. In this article, we discuss the status of genetic modelling for hereditary and sporadic endocrine tumourigenesis with a goal towards providing a view of how this technology will be of future benefit to clinicians developing specifically targeted therapies for endocrine tumours.
自基因组时代以来，在确定内分泌肿瘤的遗传原因方面取得了巨大进展。虽然这些知识本身就很有价值，但了解肿瘤发生的分子基础可以开发针对致病缺陷的新疗法。了解基因型和表型之间的联系是一个复杂的过程，仅从对原发性肿瘤的分析或对体外细胞的研究中还无法完全理解。为了弥补这一差距，已经开发出了基因修饰小鼠，以允许在完整的生物体中对相关缺陷进行分子剖析。在本文中，我们讨论了遗传性和散发性内分泌肿瘤发生的遗传建模现状，以期展望该技术将如何为临床医生开发针对内分泌肿瘤的特异性靶向治疗带来未来的益处。
