文章：

罕见的核糖体病：对癌症机制的见解

Rare ribosomopathies: insights into mechanisms of cancer

原文发布日期：2019-01-22

DOI: 10.1038/s41568-019-0105-0

类型: Review Article

开放获取: 否

英文摘要：

Long thought to be too big and too ubiquitous to fail, we now know that human cells can fail to make sufficient amounts of ribosomes, causing a number of diseases collectively known as ribosomopathies. The best characterized ribosomopathies, with the exception of Treacher Collins syndrome, are inherited bone marrow failure syndromes, each of which has a marked increase in cancer predisposition relative to the general population. Although rare, emerging data reveal that the inherited bone marrow failure syndromes may be underdiagnosed on the basis of classical symptomology, leaving undiagnosed patients with these syndromes at an elevated risk of cancer without adequate counselling and surveillance. The link between the inherited ribosomopathies and cancer has led to greater awareness that somatic mutations in factors involved in ribosome biogenesis may also be drivers in sporadic cancers. Our goal here is to compare and contrast the pathophysiological mechanisms underpinning ribosomopathies to gain a better understanding of the mechanisms that predispose these disorders to cancer.

摘要翻译： 

曾被认为因其庞大和普遍存在而不可能出现故障，但我们现在知道，人类细胞可能无法制造足够数量的核糖体，从而导致一系列统称为核糖体病的疾病。除了特雷彻·柯林斯综合征外，特征最明确的核糖体病是遗传性骨髓衰竭综合征，每种综合征相对于普通人群患癌倾向均显著增加。尽管罕见，但新出现的数据显示，基于经典症状学，遗传性骨髓衰竭综合征可能存在诊断不足的情况，导致未确诊患者面临更高的癌症风险，且缺乏充分的咨询和监测。遗传性核糖体病与癌症之间的联系使人们更加认识到，涉及核糖体生物合成的因子发生体细胞突变，也可能成为散发性癌症的驱动因素。我们的目标是比较和对比支撑核糖体病的病理生理机制，以更好地理解这些疾病易患癌症的机制。

原文链接：

Rare ribosomopathies: insights into mechanisms of cancer