Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005.
Mutations in genes that play fundamental roles in metabolic pathways have been found to also play a role in tumor development and susceptibility to cancer. At the same time, significant progress has been made in the treatment of patients with inborn errors of metabolism (IEM),(1) resulting in increased longevity and the unmasking of cancer predisposition, frequently hepatocellular carcinoma, in these conditions. These patients offer a potential opportunity to deepen our understanding of how intermediary metabolism impacts tumorigenesis. We provide an overview from the perspective of cancers in patients affected with IEM and discuss how dysregulation of these specific metabolic pathways might contribute to the mechanisms of cancer development and treatment.
在代谢途径中起基本作用的基因突变也被发现与肿瘤发生和癌症易感性有关。与此同时，代谢性遗传病（IEM）患者的治疗取得了重大进展，导致这些患者的寿命延长，并且经常会出现肝癌等癌症易感性。这些患者为深入了解中间代谢如何影响肿瘤发生提供了潜在机会。我们从患有 IEM 的患者的癌症角度提供了一个概述，并讨论了这些特定代谢途径的失调如何导致癌症发展和治疗的机制。
