从先天性代谢缺陷看癌症的发病机制和治疗。
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
出版信息
Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005.
Abstract
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.
摘要
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。
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本文引用的文献
1
Porphyria cutanea tarda--when skin meets liver.迟发性皮肤卟啉病——皮肤与肝脏的相遇。
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002.
2
Wilson disease.威尔逊病。
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):531-9. doi: 10.1016/j.bpg.2010.07.014.
3
[Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?].[杂合子α-1-抗胰蛋白酶缺乏症（PiMZ）：非肝硬化肝脏中原发性肝癌发生的危险因素？]
Z Gastroenterol. 2010 Oct;48(10):1211-4. doi: 10.1055/s-0029-1245204. Epub 2010 Sep 30.
4
Oxidative phosphorylation in cancer cells.癌细胞中的氧化磷酸化
Biochim Biophys Acta. 2011 Jun;1807(6):534-42. doi: 10.1016/j.bbabio.2010.09.003. Epub 2010 Sep 16.
5
Balancing biosynthesis and bioenergetics: metabolic programs in oncogenesis.平衡生物合成和生物能量学：致癌发生中的代谢程序。
Endocr Relat Cancer. 2010 Sep 23;17(4):R287-304. doi: 10.1677/ERC-10-0106. Print 2010 Dec.
6
IDH mutations in glioma and acute myeloid leukemia.IDH 突变在胶质瘤和急性髓系白血病中的作用。
Trends Mol Med. 2010 Sep;16(9):387-97. doi: 10.1016/j.molmed.2010.07.002. Epub 2010 Aug 5.
7
Malignant pheochromocytomas and paragangliomas - the importance of a multidisciplinary approach.恶性嗜铬细胞瘤和副神经节瘤——多学科方法的重要性。
Cancer Treat Rev. 2011 Apr;37(2):111-9. doi: 10.1016/j.ctrv.2010.07.002. Epub 2010 Aug 2.
8
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Int J Cancer. 2011 May 15;128(10):2326-34. doi: 10.1002/ijc.25577.
9
Fabry disease: a review of current management strategies.法布瑞病：当前治疗策略综述。
QJM. 2010 Sep;103(9):641-59. doi: 10.1093/qjmed/hcq117. Epub 2010 Jul 21.
10
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Lancet Oncol. 2011 Jan;12(1):83-91. doi: 10.1016/S1470-2045(10)70053-X. Epub 2010 Jul 7.
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