人类肝细胞癌中常见简单重复序列处微卫星不稳定性水平较低。
Low Levels of Microsatellite Instability at Simple Repeated Sequences Commonly Occur in Human Hepatocellular Carcinoma.
作者信息
Goumard Claire, Desbois-Mouthon Christele, Wendum Dominique, Calmel Claire, Merabtene Fatiha, Scatton Olivier, Praz Françoise
机构信息
Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Centre de Recherche Saint-Antoine (CRSA), Paris, France.
APHP, Hôpital Saint-Antoine, Service d'Anatomie Pathologique, Paris, France.
出版信息
Cancer Genomics Proteomics. 2017 Sep-Oct;14(5):329-339. doi: 10.21873/cgp.20043.
Abstract
BACKGROUND/AIM: The aim of this study was to assess the incidence of MSI in a large series of human hepatocellular carcinomas (HCC) with various etiologies.
MATERIALS AND METHODS
The MSI status was determined by polymerase chain reaction (PCR) using 5 mononucleotide and 13 CAn dinucleotide repeats.
RESULTS
None of the 122 HCC samples displayed an MSI-High phenotype, as defined by the presence of alterations at more than 30% of the microsatellite markers analyzed. Yet, limited microsatellite instability consisting in the insertion or deletion of a few repeat motifs was detected in 32 tumor samples (26.2%), regardless of the etiology of the underlying liver disease. MSI tended to be higher in patients with cirrhosis (p=0.051), possibly reflecting an impact of the inflammatory context in this process.
CONCLUSION
Based on a large series of HCC with various etiologies, our study allowed us to definitely conclude that MSI is not a hallmark of HCC.
摘要
背景/目的：本研究旨在评估一系列具有不同病因的人类肝细胞癌（HCC）中微卫星不稳定性（MSI）的发生率。
材料与方法
使用5个单核苷酸重复序列和13个双核苷酸重复序列，通过聚合酶链反应（PCR）确定MSI状态。
结果
122例HCC样本中，没有一个呈现MSI-High表型，即在所分析的微卫星标记中，超过30%存在改变。然而，在32个肿瘤样本（26.2%）中检测到有限的微卫星不稳定性，表现为少数重复基序的插入或缺失，与潜在肝病的病因无关。肝硬化患者的MSI倾向于更高（p=0.051），这可能反映了炎症环境在此过程中的影响。
结论
基于一系列具有不同病因的HCC，我们的研究使我们能够明确得出结论，MSI不是HCC的特征。
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本文引用的文献
1
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Anticancer Res. 2016 Oct;36(10):5087-5095. doi: 10.21873/anticanres.11078.
2
Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.综述：遗传性DNA错配修复基因突变的临床方面
DNA Repair (Amst). 2016 Feb;38:155-162. doi: 10.1016/j.dnarep.2015.11.018. Epub 2015 Dec 11.
3
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4
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Virology. 2014 Aug;462-463(100):34-41. doi: 10.1016/j.virol.2014.05.016. Epub 2014 Jun 14.
5
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Nat Rev Gastroenterol Hepatol. 2014 Jun;11(6):340-9. doi: 10.1038/nrgastro.2014.6. Epub 2014 Jan 28.
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